Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7820514_7820525delinsGGACGGTCCATACA1152100104PER3c.1831_1842delinsGGACGGTCCATA (p.Gly611=)
c.1807_1818delinsGGACGGTCCATA (p.Gly603=)
c.1810_1821delinsGGACGGTCCATA (p.Gly604=)
c.874_885delinsGGACGGTCCATA (p.Gly292=)
c.1828_1839delinsGGACGGTCCATA (p.Gly610=)
c.1306_1317delinsGGACGGTCCATA (p.Gly436=)
c.1663_1674delinsGGACGGTCCATA (p.Gly555=)
c.1483_1494delinsGGACGGTCCATA (p.Gly495=)
c.1468_1479delinsGGACGGTCCATA (p.Gly490=)
c.1462_1473delinsGGACGGTCCATA (p.Gly488=)
c.439_450delinsGGACGGTCCATA (p.Gly147=)
c.1285_1296delinsGGACGGTCCATA (p.Gly429=)
1g.7820518_7820528delCA521019916PER3c.1835_1845del (p.Arg612HisfsTer?)
c.1811_1821del (p.Arg604HisfsTer?)
c.1814_1824del (p.Arg605HisfsTer?)
c.878_888del (p.Arg293HisfsTer?)
c.1832_1842del (p.Arg611HisfsTer?)
c.1310_1320del (p.Arg437HisfsTer?)
c.1667_1677del (p.Arg556HisfsTer?)
c.1487_1497del (p.Arg496HisfsTer?)
c.1472_1482del (p.Arg491HisfsTer?)
c.1466_1476del (p.Arg489HisfsTer?)
c.443_453del (p.Arg148HisfsTer?)
c.1289_1299del (p.Arg430HisfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.7820523A=CA1152100148PER3c.1840A= (p.Ile614=)
c.1816A= (p.Ile606=)
c.1819A= (p.Ile607=)
c.883A= (p.Ile295=)
c.1837A= (p.Ile613=)
c.1315A= (p.Ile439=)
c.1672A= (p.Ile558=)
c.1492A= (p.Ile498=)
c.1477A= (p.Ile493=)
c.1471A= (p.Ile491=)
c.448A= (p.Ile150=)
c.1294A= (p.Ile432=)
1g.7820523A>CCA338145719PER3c.1840A>C (p.Ile614Leu)
c.1816A>C (p.Ile606Leu)
c.1819A>C (p.Ile607Leu)
c.883A>C (p.Ile295Leu)
c.1837A>C (p.Ile613Leu)
c.1315A>C (p.Ile439Leu)
c.1672A>C (p.Ile558Leu)
c.1492A>C (p.Ile498Leu)
c.1477A>C (p.Ile493Leu)
c.1471A>C (p.Ile491Leu)
c.448A>C (p.Ile150Leu)
c.1294A>C (p.Ile432Leu)
1g.7820523A>GCA338145721PER3c.1840A>G (p.Ile614Val)
c.1816A>G (p.Ile606Val)
c.1819A>G (p.Ile607Val)
c.883A>G (p.Ile295Val)
c.1837A>G (p.Ile613Val)
c.1315A>G (p.Ile439Val)
c.1672A>G (p.Ile558Val)
c.1492A>G (p.Ile498Val)
c.1477A>G (p.Ile493Val)
c.1471A>G (p.Ile491Val)
c.448A>G (p.Ile150Val)
c.1294A>G (p.Ile432Val)
 dbSNP gnomAD v2 gnomAD v4
1g.7820523A>TCA338145723PER3c.1840A>T (p.Ile614Leu)
c.1816A>T (p.Ile606Leu)
c.1819A>T (p.Ile607Leu)
c.883A>T (p.Ile295Leu)
c.1837A>T (p.Ile613Leu)
c.1315A>T (p.Ile439Leu)
c.1672A>T (p.Ile558Leu)
c.1492A>T (p.Ile498Leu)
c.1477A>T (p.Ile493Leu)
c.1471A>T (p.Ile491Leu)
c.448A>T (p.Ile150Leu)
c.1294A>T (p.Ile432Leu)
1g.7820524T>ACA338145725PER3c.1841T>A (p.Ile614Lys)
c.1817T>A (p.Ile606Lys)
c.1820T>A (p.Ile607Lys)
c.884T>A (p.Ile295Lys)
c.1838T>A (p.Ile613Lys)
c.1316T>A (p.Ile439Lys)
c.1673T>A (p.Ile558Lys)
c.1493T>A (p.Ile498Lys)
c.1478T>A (p.Ile493Lys)
c.1472T>A (p.Ile491Lys)
c.449T>A (p.Ile150Lys)
c.1295T>A (p.Ile432Lys)
1g.7820524T>CCA338145727PER3c.1841T>C (p.Ile614Thr)
c.1817T>C (p.Ile606Thr)
c.1820T>C (p.Ile607Thr)
c.884T>C (p.Ile295Thr)
c.1838T>C (p.Ile613Thr)
c.1316T>C (p.Ile439Thr)
c.1673T>C (p.Ile558Thr)
c.1493T>C (p.Ile498Thr)
c.1478T>C (p.Ile493Thr)
c.1472T>C (p.Ile491Thr)
c.449T>C (p.Ile150Thr)
c.1295T>C (p.Ile432Thr)
1g.7820524T>GCA338145728PER3c.1841T>G (p.Ile614Arg)
c.1817T>G (p.Ile606Arg)
c.1820T>G (p.Ile607Arg)
c.884T>G (p.Ile295Arg)
c.1838T>G (p.Ile613Arg)
c.1316T>G (p.Ile439Arg)
c.1673T>G (p.Ile558Arg)
c.1493T>G (p.Ile498Arg)
c.1478T>G (p.Ile493Arg)
c.1472T>G (p.Ile491Arg)
c.449T>G (p.Ile150Arg)
c.1295T>G (p.Ile432Arg)
1g.7820525A=CA1140456538PER3c.1842A= (p.Ile614=)
c.1818A= (p.Ile606=)
c.1821A= (p.Ile607=)
c.885A= (p.Ile295=)
c.1839A= (p.Ile613=)
c.1317A= (p.Ile439=)
c.1674A= (p.Ile558=)
c.1494A= (p.Ile498=)
c.1479A= (p.Ile493=)
c.1473A= (p.Ile491=)
c.450A= (p.Ile150=)
c.1296A= (p.Ile432=)
1g.7820525A>CCA415839378PER3c.1842A>C (p.Ile614=)
c.1818A>C (p.Ile606=)
c.1821A>C (p.Ile607=)
c.885A>C (p.Ile295=)
c.1839A>C (p.Ile613=)
c.1317A>C (p.Ile439=)
c.1674A>C (p.Ile558=)
c.1494A>C (p.Ile498=)
c.1479A>C (p.Ile493=)
c.1473A>C (p.Ile491=)
c.450A>C (p.Ile150=)
c.1296A>C (p.Ile432=)
1g.7820525A>GCA338145731PER3c.1842A>G (p.Ile614Met)
c.1818A>G (p.Ile606Met)
c.1821A>G (p.Ile607Met)
c.885A>G (p.Ile295Met)
c.1839A>G (p.Ile613Met)
c.1317A>G (p.Ile439Met)
c.1674A>G (p.Ile558Met)
c.1494A>G (p.Ile498Met)
c.1479A>G (p.Ile493Met)
c.1473A>G (p.Ile491Met)
c.450A>G (p.Ile150Met)
c.1296A>G (p.Ile432Met)
1g.7820525A>TCA568224PER3c.1842A>T (p.Ile614=)
c.1818A>T (p.Ile606=)
c.1821A>T (p.Ile607=)
c.885A>T (p.Ile295=)
c.1839A>T (p.Ile613=)
c.1317A>T (p.Ile439=)
c.1674A>T (p.Ile558=)
c.1494A>T (p.Ile498=)
c.1479A>T (p.Ile493=)
c.1473A>T (p.Ile491=)
c.450A>T (p.Ile150=)
c.1296A>T (p.Ile432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820526G>ACA338145737PER3c.1843G>A (p.Asp615Asn)
c.1819G>A (p.Asp607Asn)
c.1822G>A (p.Asp608Asn)
c.886G>A (p.Asp296Asn)
c.1840G>A (p.Asp614Asn)
c.1318G>A (p.Asp440Asn)
c.1675G>A (p.Asp559Asn)
c.1495G>A (p.Asp499Asn)
c.1480G>A (p.Asp494Asn)
c.1474G>A (p.Asp492Asn)
c.451G>A (p.Asp151Asn)
c.1297G>A (p.Asp433Asn)
 gnomAD v4
1g.7820526G>CCA338145739PER3c.1843G>C (p.Asp615His)
c.1819G>C (p.Asp607His)
c.1822G>C (p.Asp608His)
c.886G>C (p.Asp296His)
c.1840G>C (p.Asp614His)
c.1318G>C (p.Asp440His)
c.1675G>C (p.Asp559His)
c.1495G>C (p.Asp499His)
c.1480G>C (p.Asp494His)
c.1474G>C (p.Asp492His)
c.451G>C (p.Asp151His)
c.1297G>C (p.Asp433His)
1g.7820526G>TCA338145741PER3c.1843G>T (p.Asp615Tyr)
c.1819G>T (p.Asp607Tyr)
c.1822G>T (p.Asp608Tyr)
c.886G>T (p.Asp296Tyr)
c.1840G>T (p.Asp614Tyr)
c.1318G>T (p.Asp440Tyr)
c.1675G>T (p.Asp559Tyr)
c.1495G>T (p.Asp499Tyr)
c.1480G>T (p.Asp494Tyr)
c.1474G>T (p.Asp492Tyr)
c.451G>T (p.Asp151Tyr)
c.1297G>T (p.Asp433Tyr)
1g.7820527A=CA1152100161PER3c.1844A= (p.Asp615=)
c.1820A= (p.Asp607=)
c.1823A= (p.Asp608=)
c.887A= (p.Asp296=)
c.1841A= (p.Asp614=)
c.1319A= (p.Asp440=)
c.1676A= (p.Asp559=)
c.1496A= (p.Asp499=)
c.1481A= (p.Asp494=)
c.1475A= (p.Asp492=)
c.452A= (p.Asp151=)
c.1298A= (p.Asp433=)
1g.7820527A>CCA338145743PER3c.1844A>C (p.Asp615Ala)
c.1820A>C (p.Asp607Ala)
c.1823A>C (p.Asp608Ala)
c.887A>C (p.Asp296Ala)
c.1841A>C (p.Asp614Ala)
c.1319A>C (p.Asp440Ala)
c.1676A>C (p.Asp559Ala)
c.1496A>C (p.Asp499Ala)
c.1481A>C (p.Asp494Ala)
c.1475A>C (p.Asp492Ala)
c.452A>C (p.Asp151Ala)
c.1298A>C (p.Asp433Ala)
1g.7820527A>GCA338145744PER3c.1844A>G (p.Asp615Gly)
c.1820A>G (p.Asp607Gly)
c.1823A>G (p.Asp608Gly)
c.887A>G (p.Asp296Gly)
c.1841A>G (p.Asp614Gly)
c.1319A>G (p.Asp440Gly)
c.1676A>G (p.Asp559Gly)
c.1496A>G (p.Asp499Gly)
c.1481A>G (p.Asp494Gly)
c.1475A>G (p.Asp492Gly)
c.452A>G (p.Asp151Gly)
c.1298A>G (p.Asp433Gly)
 COSMIC
1g.7820527A>TCA568225PER3c.1844A>T (p.Asp615Val)
c.1820A>T (p.Asp607Val)
c.1823A>T (p.Asp608Val)
c.887A>T (p.Asp296Val)
c.1841A>T (p.Asp614Val)
c.1319A>T (p.Asp440Val)
c.1676A>T (p.Asp559Val)
c.1496A>T (p.Asp499Val)
c.1481A>T (p.Asp494Val)
c.1475A>T (p.Asp492Val)
c.452A>T (p.Asp151Val)
c.1298A>T (p.Asp433Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820528C>ACA338145745PER3c.1845C>A (p.Asp615Glu)
c.1821C>A (p.Asp607Glu)
c.1824C>A (p.Asp608Glu)
c.888C>A (p.Asp296Glu)
c.1842C>A (p.Asp614Glu)
c.1320C>A (p.Asp440Glu)
c.1677C>A (p.Asp559Glu)
c.1497C>A (p.Asp499Glu)
c.1482C>A (p.Asp494Glu)
c.1476C>A (p.Asp492Glu)
c.453C>A (p.Asp151Glu)
c.1299C>A (p.Asp433Glu)
1g.7820528C>GCA338145747PER3c.1845C>G (p.Asp615Glu)
c.1821C>G (p.Asp607Glu)
c.1824C>G (p.Asp608Glu)
c.888C>G (p.Asp296Glu)
c.1842C>G (p.Asp614Glu)
c.1320C>G (p.Asp440Glu)
c.1677C>G (p.Asp559Glu)
c.1497C>G (p.Asp499Glu)
c.1482C>G (p.Asp494Glu)
c.1476C>G (p.Asp492Glu)
c.453C>G (p.Asp151Glu)
c.1299C>G (p.Asp433Glu)
1g.7820528C>TCA415839379PER3c.1845C>T (p.Asp615=)
c.1821C>T (p.Asp607=)
c.1824C>T (p.Asp608=)
c.888C>T (p.Asp296=)
c.1842C>T (p.Asp614=)
c.1320C>T (p.Asp440=)
c.1677C>T (p.Asp559=)
c.1497C>T (p.Asp499=)
c.1482C>T (p.Asp494=)
c.1476C>T (p.Asp492=)
c.453C>T (p.Asp151=)
c.1299C>T (p.Asp433=)
 gnomAD v4
1g.7820529A=CA1149105610PER3c.1846A= (p.Thr616=)
c.1822A= (p.Thr608=)
c.1825A= (p.Thr609=)
c.889A= (p.Thr297=)
c.1843A= (p.Thr615=)
c.1321A= (p.Thr441=)
c.1678A= (p.Thr560=)
c.1498A= (p.Thr500=)
c.1483A= (p.Thr495=)
c.1477A= (p.Thr493=)
c.454A= (p.Thr152=)
c.1300A= (p.Thr434=)
1g.7820529A>CCA568226PER3c.1846A>C (p.Thr616Pro)
c.1822A>C (p.Thr608Pro)
c.1825A>C (p.Thr609Pro)
c.889A>C (p.Thr297Pro)
c.1843A>C (p.Thr615Pro)
c.1321A>C (p.Thr441Pro)
c.1678A>C (p.Thr560Pro)
c.1498A>C (p.Thr500Pro)
c.1483A>C (p.Thr495Pro)
c.1477A>C (p.Thr493Pro)
c.454A>C (p.Thr152Pro)
c.1300A>C (p.Thr434Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820529A>GCA338145749PER3c.1846A>G (p.Thr616Ala)
c.1822A>G (p.Thr608Ala)
c.1825A>G (p.Thr609Ala)
c.889A>G (p.Thr297Ala)
c.1843A>G (p.Thr615Ala)
c.1321A>G (p.Thr441Ala)
c.1678A>G (p.Thr560Ala)
c.1498A>G (p.Thr500Ala)
c.1483A>G (p.Thr495Ala)
c.1477A>G (p.Thr493Ala)
c.454A>G (p.Thr152Ala)
c.1300A>G (p.Thr434Ala)
1g.7820529A>TCA338145751PER3c.1846A>T (p.Thr616Ser)
c.1822A>T (p.Thr608Ser)
c.1825A>T (p.Thr609Ser)
c.889A>T (p.Thr297Ser)
c.1843A>T (p.Thr615Ser)
c.1321A>T (p.Thr441Ser)
c.1678A>T (p.Thr560Ser)
c.1498A>T (p.Thr500Ser)
c.1483A>T (p.Thr495Ser)
c.1477A>T (p.Thr493Ser)
c.454A>T (p.Thr152Ser)
c.1300A>T (p.Thr434Ser)
1g.7820530C>ACA338145752PER3c.1847C>A (p.Thr616Lys)
c.1823C>A (p.Thr608Lys)
c.1826C>A (p.Thr609Lys)
c.890C>A (p.Thr297Lys)
c.1844C>A (p.Thr615Lys)
c.1322C>A (p.Thr441Lys)
c.1679C>A (p.Thr560Lys)
c.1499C>A (p.Thr500Lys)
c.1484C>A (p.Thr495Lys)
c.1478C>A (p.Thr493Lys)
c.455C>A (p.Thr152Lys)
c.1301C>A (p.Thr434Lys)
1g.7820530C=CA1143692791PER3c.1847C= (p.Thr616=)
c.1823C= (p.Thr608=)
c.1826C= (p.Thr609=)
c.890C= (p.Thr297=)
c.1844C= (p.Thr615=)
c.1322C= (p.Thr441=)
c.1679C= (p.Thr560=)
c.1499C= (p.Thr500=)
c.1484C= (p.Thr495=)
c.1478C= (p.Thr493=)
c.455C= (p.Thr152=)
c.1301C= (p.Thr434=)
1g.7820530C>GCA568227PER3c.1847C>G (p.Thr616Arg)
c.1823C>G (p.Thr608Arg)
c.1826C>G (p.Thr609Arg)
c.890C>G (p.Thr297Arg)
c.1844C>G (p.Thr615Arg)
c.1322C>G (p.Thr441Arg)
c.1679C>G (p.Thr560Arg)
c.1499C>G (p.Thr500Arg)
c.1484C>G (p.Thr495Arg)
c.1478C>G (p.Thr493Arg)
c.455C>G (p.Thr152Arg)
c.1301C>G (p.Thr434Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820530C>TCA338145753PER3c.1847C>T (p.Thr616Ile)
c.1823C>T (p.Thr608Ile)
c.1826C>T (p.Thr609Ile)
c.890C>T (p.Thr297Ile)
c.1844C>T (p.Thr615Ile)
c.1322C>T (p.Thr441Ile)
c.1679C>T (p.Thr560Ile)
c.1499C>T (p.Thr500Ile)
c.1484C>T (p.Thr495Ile)
c.1478C>T (p.Thr493Ile)
c.455C>T (p.Thr152Ile)
c.1301C>T (p.Thr434Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820531A>CCA415839380PER3c.1848A>C (p.Thr616=)
c.1824A>C (p.Thr608=)
c.1827A>C (p.Thr609=)
c.891A>C (p.Thr297=)
c.1845A>C (p.Thr615=)
c.1323A>C (p.Thr441=)
c.1680A>C (p.Thr560=)
c.1500A>C (p.Thr500=)
c.1485A>C (p.Thr495=)
c.1479A>C (p.Thr493=)
c.456A>C (p.Thr152=)
c.1302A>C (p.Thr434=)
 gnomAD v4
1g.7820531A>GCA415839381PER3c.1848A>G (p.Thr616=)
c.1824A>G (p.Thr608=)
c.1827A>G (p.Thr609=)
c.891A>G (p.Thr297=)
c.1845A>G (p.Thr615=)
c.1323A>G (p.Thr441=)
c.1680A>G (p.Thr560=)
c.1500A>G (p.Thr500=)
c.1485A>G (p.Thr495=)
c.1479A>G (p.Thr493=)
c.456A>G (p.Thr152=)
c.1302A>G (p.Thr434=)
1g.7820531A>TCA415839382PER3c.1848A>T (p.Thr616=)
c.1824A>T (p.Thr608=)
c.1827A>T (p.Thr609=)
c.891A>T (p.Thr297=)
c.1845A>T (p.Thr615=)
c.1323A>T (p.Thr441=)
c.1680A>T (p.Thr560=)
c.1500A>T (p.Thr500=)
c.1485A>T (p.Thr495=)
c.1479A>T (p.Thr493=)
c.456A>T (p.Thr152=)
c.1302A>T (p.Thr434=)
1g.7820539_7820541delCA2574198126PER3c.1856_1858del (p.Gly619del)
c.1832_1834del (p.Gly611del)
c.1835_1837del (p.Gly612del)
c.899_901del (p.Gly300del)
c.1853_1855del (p.Gly618del)
c.1331_1333del (p.Gly444del)
c.1688_1690del (p.Gly563del)
c.1508_1510del (p.Gly503del)
c.1493_1495del (p.Gly498del)
c.1487_1489del (p.Gly496del)
c.464_466del (p.Gly155del)
c.1310_1312del (p.Gly437del)
 gnomAD v4
1g.7820532G>ACA338145754PER3c.1849G>A (p.Gly617Arg)
c.1825G>A (p.Gly609Arg)
c.1828G>A (p.Gly610Arg)
c.892G>A (p.Gly298Arg)
c.1846G>A (p.Gly616Arg)
c.1324G>A (p.Gly442Arg)
c.1681G>A (p.Gly561Arg)
c.1501G>A (p.Gly501Arg)
c.1486G>A (p.Gly496Arg)
c.1480G>A (p.Gly494Arg)
c.457G>A (p.Gly153Arg)
c.1303G>A (p.Gly435Arg)
1g.7820532G>CCA338145755PER3c.1849G>C (p.Gly617Arg)
c.1825G>C (p.Gly609Arg)
c.1828G>C (p.Gly610Arg)
c.892G>C (p.Gly298Arg)
c.1846G>C (p.Gly616Arg)
c.1324G>C (p.Gly442Arg)
c.1681G>C (p.Gly561Arg)
c.1501G>C (p.Gly501Arg)
c.1486G>C (p.Gly496Arg)
c.1480G>C (p.Gly494Arg)
c.457G>C (p.Gly153Arg)
c.1303G>C (p.Gly435Arg)
1g.7820532G>TCA338145756PER3c.1849G>T (p.Gly617Ter)
c.1825G>T (p.Gly609Ter)
c.1828G>T (p.Gly610Ter)
c.892G>T (p.Gly298Ter)
c.1846G>T (p.Gly616Ter)
c.1324G>T (p.Gly442Ter)
c.1681G>T (p.Gly561Ter)
c.1501G>T (p.Gly501Ter)
c.1486G>T (p.Gly496Ter)
c.1480G>T (p.Gly494Ter)
c.457G>T (p.Gly153Ter)
c.1303G>T (p.Gly435Ter)
1g.7820533G>ACA338145758PER3c.1850G>A (p.Gly617Glu)
c.1826G>A (p.Gly609Glu)
c.1829G>A (p.Gly610Glu)
c.893G>A (p.Gly298Glu)
c.1847G>A (p.Gly616Glu)
c.1325G>A (p.Gly442Glu)
c.1682G>A (p.Gly561Glu)
c.1502G>A (p.Gly501Glu)
c.1487G>A (p.Gly496Glu)
c.1481G>A (p.Gly494Glu)
c.458G>A (p.Gly153Glu)
c.1304G>A (p.Gly435Glu)
1g.7820533G>CCA338145760PER3c.1850G>C (p.Gly617Ala)
c.1826G>C (p.Gly609Ala)
c.1829G>C (p.Gly610Ala)
c.893G>C (p.Gly298Ala)
c.1847G>C (p.Gly616Ala)
c.1325G>C (p.Gly442Ala)
c.1682G>C (p.Gly561Ala)
c.1502G>C (p.Gly501Ala)
c.1487G>C (p.Gly496Ala)
c.1481G>C (p.Gly494Ala)
c.458G>C (p.Gly153Ala)
c.1304G>C (p.Gly435Ala)
 gnomAD v4
1g.7820533G>TCA338145762PER3c.1850G>T (p.Gly617Val)
c.1826G>T (p.Gly609Val)
c.1829G>T (p.Gly610Val)
c.893G>T (p.Gly298Val)
c.1847G>T (p.Gly616Val)
c.1325G>T (p.Gly442Val)
c.1682G>T (p.Gly561Val)
c.1502G>T (p.Gly501Val)
c.1487G>T (p.Gly496Val)
c.1481G>T (p.Gly494Val)
c.458G>T (p.Gly153Val)
c.1304G>T (p.Gly435Val)
1g.7820534A=CA1152100169PER3c.1851A= (p.Gly617=)
c.1827A= (p.Gly609=)
c.1830A= (p.Gly610=)
c.894A= (p.Gly298=)
c.1848A= (p.Gly616=)
c.1326A= (p.Gly442=)
c.1683A= (p.Gly561=)
c.1503A= (p.Gly501=)
c.1488A= (p.Gly496=)
c.1482A= (p.Gly494=)
c.459A= (p.Gly153=)
c.1305A= (p.Gly435=)
1g.7820534A>CCA415839383PER3c.1851A>C (p.Gly617=)
c.1827A>C (p.Gly609=)
c.1830A>C (p.Gly610=)
c.894A>C (p.Gly298=)
c.1848A>C (p.Gly616=)
c.1326A>C (p.Gly442=)
c.1683A>C (p.Gly561=)
c.1503A>C (p.Gly501=)
c.1488A>C (p.Gly496=)
c.1482A>C (p.Gly494=)
c.459A>C (p.Gly153=)
c.1305A>C (p.Gly435=)
 gnomAD v4
1g.7820534A>GCA415839384PER3c.1851A>G (p.Gly617=)
c.1827A>G (p.Gly609=)
c.1830A>G (p.Gly610=)
c.894A>G (p.Gly298=)
c.1848A>G (p.Gly616=)
c.1326A>G (p.Gly442=)
c.1683A>G (p.Gly561=)
c.1503A>G (p.Gly501=)
c.1488A>G (p.Gly496=)
c.1482A>G (p.Gly494=)
c.459A>G (p.Gly153=)
c.1305A>G (p.Gly435=)
1g.7820534A>TCA415839385PER3c.1851A>T (p.Gly617=)
c.1827A>T (p.Gly609=)
c.1830A>T (p.Gly610=)
c.894A>T (p.Gly298=)
c.1848A>T (p.Gly616=)
c.1326A>T (p.Gly442=)
c.1683A>T (p.Gly561=)
c.1503A>T (p.Gly501=)
c.1488A>T (p.Gly496=)
c.1482A>T (p.Gly494=)
c.459A>T (p.Gly153=)
c.1305A>T (p.Gly435=)
1g.7820535G>ACA338145766PER3c.1852G>A (p.Gly618Arg)
c.1828G>A (p.Gly610Arg)
c.1831G>A (p.Gly611Arg)
c.895G>A (p.Gly299Arg)
c.1849G>A (p.Gly617Arg)
c.1327G>A (p.Gly443Arg)
c.1684G>A (p.Gly562Arg)
c.1504G>A (p.Gly502Arg)
c.1489G>A (p.Gly497Arg)
c.1483G>A (p.Gly495Arg)
c.460G>A (p.Gly154Arg)
c.1306G>A (p.Gly436Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.7820535G>CCA338145764PER3c.1852G>C (p.Gly618Arg)
c.1828G>C (p.Gly610Arg)
c.1831G>C (p.Gly611Arg)
c.895G>C (p.Gly299Arg)
c.1849G>C (p.Gly617Arg)
c.1327G>C (p.Gly443Arg)
c.1684G>C (p.Gly562Arg)
c.1504G>C (p.Gly502Arg)
c.1489G>C (p.Gly497Arg)
c.1483G>C (p.Gly495Arg)
c.460G>C (p.Gly154Arg)
c.1306G>C (p.Gly436Arg)
1g.7820535G=CA1152100176PER3c.1852G= (p.Gly618=)
c.1828G= (p.Gly610=)
c.1831G= (p.Gly611=)
c.895G= (p.Gly299=)
c.1849G= (p.Gly617=)
c.1327G= (p.Gly443=)
c.1684G= (p.Gly562=)
c.1504G= (p.Gly502=)
c.1489G= (p.Gly497=)
c.1483G= (p.Gly495=)
c.460G= (p.Gly154=)
c.1306G= (p.Gly436=)
1g.7820535G>TCA338145763PER3c.1852G>T (p.Gly618Ter)
c.1828G>T (p.Gly610Ter)
c.1831G>T (p.Gly611Ter)
c.895G>T (p.Gly299Ter)
c.1849G>T (p.Gly617Ter)
c.1327G>T (p.Gly443Ter)
c.1684G>T (p.Gly562Ter)
c.1504G>T (p.Gly502Ter)
c.1489G>T (p.Gly497Ter)
c.1483G>T (p.Gly495Ter)
c.460G>T (p.Gly154Ter)
c.1306G>T (p.Gly436Ter)
1g.7820536dupCA568228PER3c.1853dup (p.Gly619ArgfsTer?)
c.1829dup (p.Gly611ArgfsTer?)
c.1832dup (p.Gly612ArgfsTer?)
c.896dup (p.Gly300ArgfsTer?)
c.1850dup (p.Gly618ArgfsTer?)
c.1328dup (p.Gly444ArgfsTer?)
c.1685dup (p.Gly563ArgfsTer?)
c.1505dup (p.Gly503ArgfsTer?)
c.1490dup (p.Gly498ArgfsTer?)
c.1484dup (p.Gly496ArgfsTer?)
c.461dup (p.Gly155ArgfsTer?)
c.1307dup (p.Gly437ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820536G>ACA338145771PER3c.1853G>A (p.Gly618Glu)
c.1829G>A (p.Gly610Glu)
c.1832G>A (p.Gly611Glu)
c.896G>A (p.Gly299Glu)
c.1850G>A (p.Gly617Glu)
c.1328G>A (p.Gly443Glu)
c.1685G>A (p.Gly562Glu)
c.1505G>A (p.Gly502Glu)
c.1490G>A (p.Gly497Glu)
c.1484G>A (p.Gly495Glu)
c.461G>A (p.Gly154Glu)
c.1307G>A (p.Gly436Glu)
1g.7820536G>CCA338145769PER3c.1853G>C (p.Gly618Ala)
c.1829G>C (p.Gly610Ala)
c.1832G>C (p.Gly611Ala)
c.896G>C (p.Gly299Ala)
c.1850G>C (p.Gly617Ala)
c.1328G>C (p.Gly443Ala)
c.1685G>C (p.Gly562Ala)
c.1505G>C (p.Gly502Ala)
c.1490G>C (p.Gly497Ala)
c.1484G>C (p.Gly495Ala)
c.461G>C (p.Gly154Ala)
c.1307G>C (p.Gly436Ala)
1g.7820536G=CA1152100186PER3c.1853G= (p.Gly618=)
c.1829G= (p.Gly610=)
c.1832G= (p.Gly611=)
c.896G= (p.Gly299=)
c.1850G= (p.Gly617=)
c.1328G= (p.Gly443=)
c.1685G= (p.Gly562=)
c.1505G= (p.Gly502=)
c.1490G= (p.Gly497=)
c.1484G= (p.Gly495=)
c.461G= (p.Gly154=)
c.1307G= (p.Gly436=)
1g.7820536G>TCA568229PER3c.1853G>T (p.Gly618Val)
c.1829G>T (p.Gly610Val)
c.1832G>T (p.Gly611Val)
c.896G>T (p.Gly299Val)
c.1850G>T (p.Gly617Val)
c.1328G>T (p.Gly443Val)
c.1685G>T (p.Gly562Val)
c.1505G>T (p.Gly502Val)
c.1490G>T (p.Gly497Val)
c.1484G>T (p.Gly495Val)
c.461G>T (p.Gly154Val)
c.1307G>T (p.Gly436Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820537A>CCA415839386PER3c.1854A>C (p.Gly618=)
c.1830A>C (p.Gly610=)
c.1833A>C (p.Gly611=)
c.897A>C (p.Gly299=)
c.1851A>C (p.Gly617=)
c.1329A>C (p.Gly443=)
c.1686A>C (p.Gly562=)
c.1506A>C (p.Gly502=)
c.1491A>C (p.Gly497=)
c.1485A>C (p.Gly495=)
c.462A>C (p.Gly154=)
c.1308A>C (p.Gly436=)
1g.7820537A>GCA415839387PER3c.1854A>G (p.Gly618=)
c.1830A>G (p.Gly610=)
c.1833A>G (p.Gly611=)
c.897A>G (p.Gly299=)
c.1851A>G (p.Gly617=)
c.1329A>G (p.Gly443=)
c.1686A>G (p.Gly562=)
c.1506A>G (p.Gly502=)
c.1491A>G (p.Gly497=)
c.1485A>G (p.Gly495=)
c.462A>G (p.Gly154=)
c.1308A>G (p.Gly436=)
1g.7820537A>TCA415839388PER3c.1854A>T (p.Gly618=)
c.1830A>T (p.Gly610=)
c.1833A>T (p.Gly611=)
c.897A>T (p.Gly299=)
c.1851A>T (p.Gly617=)
c.1329A>T (p.Gly443=)
c.1686A>T (p.Gly562=)
c.1506A>T (p.Gly502=)
c.1491A>T (p.Gly497=)
c.1485A>T (p.Gly495=)
c.462A>T (p.Gly154=)
c.1308A>T (p.Gly436=)
1g.7820538G>ACA338145772PER3c.1855G>A (p.Gly619Arg)
c.1831G>A (p.Gly611Arg)
c.1834G>A (p.Gly612Arg)
c.898G>A (p.Gly300Arg)
c.1852G>A (p.Gly618Arg)
c.1330G>A (p.Gly444Arg)
c.1687G>A (p.Gly563Arg)
c.1507G>A (p.Gly503Arg)
c.1492G>A (p.Gly498Arg)
c.1486G>A (p.Gly496Arg)
c.463G>A (p.Gly155Arg)
c.1309G>A (p.Gly437Arg)
 dbSNP gnomAD v4
1g.7820538G>CCA338145774PER3c.1855G>C (p.Gly619Arg)
c.1831G>C (p.Gly611Arg)
c.1834G>C (p.Gly612Arg)
c.898G>C (p.Gly300Arg)
c.1852G>C (p.Gly618Arg)
c.1330G>C (p.Gly444Arg)
c.1687G>C (p.Gly563Arg)
c.1507G>C (p.Gly503Arg)
c.1492G>C (p.Gly498Arg)
c.1486G>C (p.Gly496Arg)
c.463G>C (p.Gly155Arg)
c.1309G>C (p.Gly437Arg)
1g.7820538G=CA1152100192PER3c.1855G= (p.Gly619=)
c.1831G= (p.Gly611=)
c.1834G= (p.Gly612=)
c.898G= (p.Gly300=)
c.1852G= (p.Gly618=)
c.1330G= (p.Gly444=)
c.1687G= (p.Gly563=)
c.1507G= (p.Gly503=)
c.1492G= (p.Gly498=)
c.1486G= (p.Gly496=)
c.463G= (p.Gly155=)
c.1309G= (p.Gly437=)
1g.7820538G>TCA338145776PER3c.1855G>T (p.Gly619Ter)
c.1831G>T (p.Gly611Ter)
c.1834G>T (p.Gly612Ter)
c.898G>T (p.Gly300Ter)
c.1852G>T (p.Gly618Ter)
c.1330G>T (p.Gly444Ter)
c.1687G>T (p.Gly563Ter)
c.1507G>T (p.Gly503Ter)
c.1492G>T (p.Gly498Ter)
c.1486G>T (p.Gly496Ter)
c.463G>T (p.Gly155Ter)
c.1309G>T (p.Gly437Ter)
 dbSNP
1g.7820539G>ACA338145779PER3c.1856G>A (p.Gly619Glu)
c.1832G>A (p.Gly611Glu)
c.1835G>A (p.Gly612Glu)
c.899G>A (p.Gly300Glu)
c.1853G>A (p.Gly618Glu)
c.1331G>A (p.Gly444Glu)
c.1688G>A (p.Gly563Glu)
c.1508G>A (p.Gly503Glu)
c.1493G>A (p.Gly498Glu)
c.1487G>A (p.Gly496Glu)
c.464G>A (p.Gly155Glu)
c.1310G>A (p.Gly437Glu)
1g.7820539G>CCA338145780PER3c.1856G>C (p.Gly619Ala)
c.1832G>C (p.Gly611Ala)
c.1835G>C (p.Gly612Ala)
c.899G>C (p.Gly300Ala)
c.1853G>C (p.Gly618Ala)
c.1331G>C (p.Gly444Ala)
c.1688G>C (p.Gly563Ala)
c.1508G>C (p.Gly503Ala)
c.1493G>C (p.Gly498Ala)
c.1487G>C (p.Gly496Ala)
c.464G>C (p.Gly155Ala)
c.1310G>C (p.Gly437Ala)
 gnomAD v4
1g.7820539G>TCA338145782PER3c.1856G>T (p.Gly619Val)
c.1832G>T (p.Gly611Val)
c.1835G>T (p.Gly612Val)
c.899G>T (p.Gly300Val)
c.1853G>T (p.Gly618Val)
c.1331G>T (p.Gly444Val)
c.1688G>T (p.Gly563Val)
c.1508G>T (p.Gly503Val)
c.1493G>T (p.Gly498Val)
c.1487G>T (p.Gly496Val)
c.464G>T (p.Gly155Val)
c.1310G>T (p.Gly437Val)
1g.7820540A=CA1152100196PER3c.1857A= (p.Gly619=)
c.1833A= (p.Gly611=)
c.1836A= (p.Gly612=)
c.900A= (p.Gly300=)
c.1854A= (p.Gly618=)
c.1332A= (p.Gly444=)
c.1689A= (p.Gly563=)
c.1509A= (p.Gly503=)
c.1494A= (p.Gly498=)
c.1488A= (p.Gly496=)
c.465A= (p.Gly155=)
c.1311A= (p.Gly437=)
1g.7820540A>CCA415839389PER3c.1857A>C (p.Gly619=)
c.1833A>C (p.Gly611=)
c.1836A>C (p.Gly612=)
c.900A>C (p.Gly300=)
c.1854A>C (p.Gly618=)
c.1332A>C (p.Gly444=)
c.1689A>C (p.Gly563=)
c.1509A>C (p.Gly503=)
c.1494A>C (p.Gly498=)
c.1488A>C (p.Gly496=)
c.465A>C (p.Gly155=)
c.1311A>C (p.Gly437=)
1g.7820540A>GCA568230PER3c.1857A>G (p.Gly619=)
c.1833A>G (p.Gly611=)
c.1836A>G (p.Gly612=)
c.900A>G (p.Gly300=)
c.1854A>G (p.Gly618=)
c.1332A>G (p.Gly444=)
c.1689A>G (p.Gly563=)
c.1509A>G (p.Gly503=)
c.1494A>G (p.Gly498=)
c.1488A>G (p.Gly496=)
c.465A>G (p.Gly155=)
c.1311A>G (p.Gly437=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820540A>TCA415839390PER3c.1857A>T (p.Gly619=)
c.1833A>T (p.Gly611=)
c.1836A>T (p.Gly612=)
c.900A>T (p.Gly300=)
c.1854A>T (p.Gly618=)
c.1332A>T (p.Gly444=)
c.1689A>T (p.Gly563=)
c.1509A>T (p.Gly503=)
c.1494A>T (p.Gly498=)
c.1488A>T (p.Gly496=)
c.465A>T (p.Gly155=)
c.1311A>T (p.Gly437=)
1g.7820541G>ACA338145786PER3c.1858G>A (p.Ala620Thr)
c.1834G>A (p.Ala612Thr)
c.1837G>A (p.Ala613Thr)
c.901G>A (p.Ala301Thr)
c.1855G>A (p.Ala619Thr)
c.1333G>A (p.Ala445Thr)
c.1690G>A (p.Ala564Thr)
c.1510G>A (p.Ala504Thr)
c.1495G>A (p.Ala499Thr)
c.1489G>A (p.Ala497Thr)
c.466G>A (p.Ala156Thr)
c.1312G>A (p.Ala438Thr)
1g.7820541G>CCA338145788PER3c.1858G>C (p.Ala620Pro)
c.1834G>C (p.Ala612Pro)
c.1837G>C (p.Ala613Pro)
c.901G>C (p.Ala301Pro)
c.1855G>C (p.Ala619Pro)
c.1333G>C (p.Ala445Pro)
c.1690G>C (p.Ala564Pro)
c.1510G>C (p.Ala504Pro)
c.1495G>C (p.Ala499Pro)
c.1489G>C (p.Ala497Pro)
c.466G>C (p.Ala156Pro)
c.1312G>C (p.Ala438Pro)
1g.7820541G>TCA338145789PER3c.1858G>T (p.Ala620Ser)
c.1834G>T (p.Ala612Ser)
c.1837G>T (p.Ala613Ser)
c.901G>T (p.Ala301Ser)
c.1855G>T (p.Ala619Ser)
c.1333G>T (p.Ala445Ser)
c.1690G>T (p.Ala564Ser)
c.1510G>T (p.Ala504Ser)
c.1495G>T (p.Ala499Ser)
c.1489G>T (p.Ala497Ser)
c.466G>T (p.Ala156Ser)
c.1312G>T (p.Ala438Ser)
1g.7820542C>ACA338145791PER3c.1859C>A (p.Ala620Asp)
c.1835C>A (p.Ala612Asp)
c.1838C>A (p.Ala613Asp)
c.902C>A (p.Ala301Asp)
c.1856C>A (p.Ala619Asp)
c.1334C>A (p.Ala445Asp)
c.1691C>A (p.Ala564Asp)
c.1511C>A (p.Ala504Asp)
c.1496C>A (p.Ala499Asp)
c.1490C>A (p.Ala497Asp)
c.467C>A (p.Ala156Asp)
c.1313C>A (p.Ala438Asp)
1g.7820542C=CA1152100207PER3c.1859C= (p.Ala620=)
c.1835C= (p.Ala612=)
c.1838C= (p.Ala613=)
c.902C= (p.Ala301=)
c.1856C= (p.Ala619=)
c.1334C= (p.Ala445=)
c.1691C= (p.Ala564=)
c.1511C= (p.Ala504=)
c.1496C= (p.Ala499=)
c.1490C= (p.Ala497=)
c.467C= (p.Ala156=)
c.1313C= (p.Ala438=)
1g.7820542C>GCA338145793PER3c.1859C>G (p.Ala620Gly)
c.1835C>G (p.Ala612Gly)
c.1838C>G (p.Ala613Gly)
c.902C>G (p.Ala301Gly)
c.1856C>G (p.Ala619Gly)
c.1334C>G (p.Ala445Gly)
c.1691C>G (p.Ala564Gly)
c.1511C>G (p.Ala504Gly)
c.1496C>G (p.Ala499Gly)
c.1490C>G (p.Ala497Gly)
c.467C>G (p.Ala156Gly)
c.1313C>G (p.Ala438Gly)
1g.7820542C>TCA568231PER3c.1859C>T (p.Ala620Val)
c.1835C>T (p.Ala612Val)
c.1838C>T (p.Ala613Val)
c.902C>T (p.Ala301Val)
c.1856C>T (p.Ala619Val)
c.1334C>T (p.Ala445Val)
c.1691C>T (p.Ala564Val)
c.1511C>T (p.Ala504Val)
c.1496C>T (p.Ala499Val)
c.1490C>T (p.Ala497Val)
c.467C>T (p.Ala156Val)
c.1313C>T (p.Ala438Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820543T>ACA415839391PER3c.1860T>A (p.Ala620=)
c.1836T>A (p.Ala612=)
c.1839T>A (p.Ala613=)
c.903T>A (p.Ala301=)
c.1857T>A (p.Ala619=)
c.1335T>A (p.Ala445=)
c.1692T>A (p.Ala564=)
c.1512T>A (p.Ala504=)
c.1497T>A (p.Ala499=)
c.1491T>A (p.Ala497=)
c.468T>A (p.Ala156=)
c.1314T>A (p.Ala438=)
1g.7820543T>CCA415839392PER3c.1860T>C (p.Ala620=)
c.1836T>C (p.Ala612=)
c.1839T>C (p.Ala613=)
c.903T>C (p.Ala301=)
c.1857T>C (p.Ala619=)
c.1335T>C (p.Ala445=)
c.1692T>C (p.Ala564=)
c.1512T>C (p.Ala504=)
c.1497T>C (p.Ala499=)
c.1491T>C (p.Ala497=)
c.468T>C (p.Ala156=)
c.1314T>C (p.Ala438=)
1g.7820543T>GCA415839393PER3c.1860T>G (p.Ala620=)
c.1836T>G (p.Ala612=)
c.1839T>G (p.Ala613=)
c.903T>G (p.Ala301=)
c.1857T>G (p.Ala619=)
c.1335T>G (p.Ala445=)
c.1692T>G (p.Ala564=)
c.1512T>G (p.Ala504=)
c.1497T>G (p.Ala499=)
c.1491T>G (p.Ala497=)
c.468T>G (p.Ala156=)
c.1314T>G (p.Ala438=)
1g.7820544C>ACA338145794PER3c.1861C>A (p.Pro621Thr)
c.1837C>A (p.Pro613Thr)
c.1840C>A (p.Pro614Thr)
c.904C>A (p.Pro302Thr)
c.1858C>A (p.Pro620Thr)
c.1336C>A (p.Pro446Thr)
c.1693C>A (p.Pro565Thr)
c.1513C>A (p.Pro505Thr)
c.1498C>A (p.Pro500Thr)
c.1492C>A (p.Pro498Thr)
c.469C>A (p.Pro157Thr)
c.1315C>A (p.Pro439Thr)
1g.7820544C=CA1152100215PER3c.1861C= (p.Pro621=)
c.1837C= (p.Pro613=)
c.1840C= (p.Pro614=)
c.904C= (p.Pro302=)
c.1858C= (p.Pro620=)
c.1336C= (p.Pro446=)
c.1693C= (p.Pro565=)
c.1513C= (p.Pro505=)
c.1498C= (p.Pro500=)
c.1492C= (p.Pro498=)
c.469C= (p.Pro157=)
c.1315C= (p.Pro439=)
1g.7820544C>GCA568232PER3c.1861C>G (p.Pro621Ala)
c.1837C>G (p.Pro613Ala)
c.1840C>G (p.Pro614Ala)
c.904C>G (p.Pro302Ala)
c.1858C>G (p.Pro620Ala)
c.1336C>G (p.Pro446Ala)
c.1693C>G (p.Pro565Ala)
c.1513C>G (p.Pro505Ala)
c.1498C>G (p.Pro500Ala)
c.1492C>G (p.Pro498Ala)
c.469C>G (p.Pro157Ala)
c.1315C>G (p.Pro439Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820544C>TCA338145796PER3c.1861C>T (p.Pro621Ser)
c.1837C>T (p.Pro613Ser)
c.1840C>T (p.Pro614Ser)
c.904C>T (p.Pro302Ser)
c.1858C>T (p.Pro620Ser)
c.1336C>T (p.Pro446Ser)
c.1693C>T (p.Pro565Ser)
c.1513C>T (p.Pro505Ser)
c.1498C>T (p.Pro500Ser)
c.1492C>T (p.Pro498Ser)
c.469C>T (p.Pro157Ser)
c.1315C>T (p.Pro439Ser)
1g.7820545C>ACA338145800PER3c.1862C>A (p.Pro621Gln)
c.1838C>A (p.Pro613Gln)
c.1841C>A (p.Pro614Gln)
c.905C>A (p.Pro302Gln)
c.1859C>A (p.Pro620Gln)
c.1337C>A (p.Pro446Gln)
c.1694C>A (p.Pro565Gln)
c.1514C>A (p.Pro505Gln)
c.1499C>A (p.Pro500Gln)
c.1493C>A (p.Pro498Gln)
c.470C>A (p.Pro157Gln)
c.1316C>A (p.Pro439Gln)
1g.7820545C=CA1152100219PER3c.1862C= (p.Pro621=)
c.1838C= (p.Pro613=)
c.1841C= (p.Pro614=)
c.905C= (p.Pro302=)
c.1859C= (p.Pro620=)
c.1337C= (p.Pro446=)
c.1694C= (p.Pro565=)
c.1514C= (p.Pro505=)
c.1499C= (p.Pro500=)
c.1493C= (p.Pro498=)
c.470C= (p.Pro157=)
c.1316C= (p.Pro439=)
1g.7820545C>GCA338145801PER3c.1862C>G (p.Pro621Arg)
c.1838C>G (p.Pro613Arg)
c.1841C>G (p.Pro614Arg)
c.905C>G (p.Pro302Arg)
c.1859C>G (p.Pro620Arg)
c.1337C>G (p.Pro446Arg)
c.1694C>G (p.Pro565Arg)
c.1514C>G (p.Pro505Arg)
c.1499C>G (p.Pro500Arg)
c.1493C>G (p.Pro498Arg)
c.470C>G (p.Pro157Arg)
c.1316C>G (p.Pro439Arg)
1g.7820545C>TCA338145803PER3c.1862C>T (p.Pro621Leu)
c.1838C>T (p.Pro613Leu)
c.1841C>T (p.Pro614Leu)
c.905C>T (p.Pro302Leu)
c.1859C>T (p.Pro620Leu)
c.1337C>T (p.Pro446Leu)
c.1694C>T (p.Pro565Leu)
c.1514C>T (p.Pro505Leu)
c.1499C>T (p.Pro500Leu)
c.1493C>T (p.Pro498Leu)
c.470C>T (p.Pro157Leu)
c.1316C>T (p.Pro439Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.7820546A=CA1152100223PER3c.1863A= (p.Pro621=)
c.1839A= (p.Pro613=)
c.1842A= (p.Pro614=)
c.906A= (p.Pro302=)
c.1860A= (p.Pro620=)
c.1338A= (p.Pro446=)
c.1695A= (p.Pro565=)
c.1515A= (p.Pro505=)
c.1500A= (p.Pro500=)
c.1494A= (p.Pro498=)
c.471A= (p.Pro157=)
c.1317A= (p.Pro439=)
1g.7820546A>CCA415839394PER3c.1863A>C (p.Pro621=)
c.1839A>C (p.Pro613=)
c.1842A>C (p.Pro614=)
c.906A>C (p.Pro302=)
c.1860A>C (p.Pro620=)
c.1338A>C (p.Pro446=)
c.1695A>C (p.Pro565=)
c.1515A>C (p.Pro505=)
c.1500A>C (p.Pro500=)
c.1494A>C (p.Pro498=)
c.471A>C (p.Pro157=)
c.1317A>C (p.Pro439=)
1g.7820546A>GCA415839395PER3c.1863A>G (p.Pro621=)
c.1839A>G (p.Pro613=)
c.1842A>G (p.Pro614=)
c.906A>G (p.Pro302=)
c.1860A>G (p.Pro620=)
c.1338A>G (p.Pro446=)
c.1695A>G (p.Pro565=)
c.1515A>G (p.Pro505=)
c.1500A>G (p.Pro500=)
c.1494A>G (p.Pro498=)
c.471A>G (p.Pro157=)
c.1317A>G (p.Pro439=)
 dbSNP
1g.7820546A>TCA415839396PER3c.1863A>T (p.Pro621=)
c.1839A>T (p.Pro613=)
c.1842A>T (p.Pro614=)
c.906A>T (p.Pro302=)
c.1860A>T (p.Pro620=)
c.1338A>T (p.Pro446=)
c.1695A>T (p.Pro565=)
c.1515A>T (p.Pro505=)
c.1500A>T (p.Pro500=)
c.1494A>T (p.Pro498=)
c.471A>T (p.Pro157=)
c.1317A>T (p.Pro439=)
1g.7820547C>ACA338145804PER3c.1864C>A (p.Gln622Lys)
c.1840C>A (p.Gln614Lys)
c.1843C>A (p.Gln615Lys)
c.907C>A (p.Gln303Lys)
c.1861C>A (p.Gln621Lys)
c.1339C>A (p.Gln447Lys)
c.1696C>A (p.Gln566Lys)
c.1516C>A (p.Gln506Lys)
c.1501C>A (p.Gln501Lys)
c.1495C>A (p.Gln499Lys)
c.472C>A (p.Gln158Lys)
c.1318C>A (p.Gln440Lys)
1g.7820547C>GCA338145807PER3c.1864C>G (p.Gln622Glu)
c.1840C>G (p.Gln614Glu)
c.1843C>G (p.Gln615Glu)
c.907C>G (p.Gln303Glu)
c.1861C>G (p.Gln621Glu)
c.1339C>G (p.Gln447Glu)
c.1696C>G (p.Gln566Glu)
c.1516C>G (p.Gln506Glu)
c.1501C>G (p.Gln501Glu)
c.1495C>G (p.Gln499Glu)
c.472C>G (p.Gln158Glu)
c.1318C>G (p.Gln440Glu)
1g.7820547C>TCA338145806PER3c.1864C>T (p.Gln622Ter)
c.1840C>T (p.Gln614Ter)
c.1843C>T (p.Gln615Ter)
c.907C>T (p.Gln303Ter)
c.1861C>T (p.Gln621Ter)
c.1339C>T (p.Gln447Ter)
c.1696C>T (p.Gln566Ter)
c.1516C>T (p.Gln506Ter)
c.1501C>T (p.Gln501Ter)
c.1495C>T (p.Gln499Ter)
c.472C>T (p.Gln158Ter)
c.1318C>T (p.Gln440Ter)
1g.7820548A>CCA338145808PER3c.1865A>C (p.Gln622Pro)
c.1841A>C (p.Gln614Pro)
c.1844A>C (p.Gln615Pro)
c.908A>C (p.Gln303Pro)
c.1862A>C (p.Gln621Pro)
c.1340A>C (p.Gln447Pro)
c.1697A>C (p.Gln566Pro)
c.1517A>C (p.Gln506Pro)
c.1502A>C (p.Gln501Pro)
c.1496A>C (p.Gln499Pro)
c.473A>C (p.Gln158Pro)
c.1319A>C (p.Gln440Pro)
1g.7820548A>GCA338145809PER3c.1865A>G (p.Gln622Arg)
c.1841A>G (p.Gln614Arg)
c.1844A>G (p.Gln615Arg)
c.908A>G (p.Gln303Arg)
c.1862A>G (p.Gln621Arg)
c.1340A>G (p.Gln447Arg)
c.1697A>G (p.Gln566Arg)
c.1517A>G (p.Gln506Arg)
c.1502A>G (p.Gln501Arg)
c.1496A>G (p.Gln499Arg)
c.473A>G (p.Gln158Arg)
c.1319A>G (p.Gln440Arg)
 gnomAD v4
1g.7820548A>TCA338145810PER3c.1865A>T (p.Gln622Leu)
c.1841A>T (p.Gln614Leu)
c.1844A>T (p.Gln615Leu)
c.908A>T (p.Gln303Leu)
c.1862A>T (p.Gln621Leu)
c.1340A>T (p.Gln447Leu)
c.1697A>T (p.Gln566Leu)
c.1517A>T (p.Gln506Leu)
c.1502A>T (p.Gln501Leu)
c.1496A>T (p.Gln499Leu)
c.473A>T (p.Gln158Leu)
c.1319A>T (p.Gln440Leu)
1g.7820549G>ACA415839399PER3c.1866G>A (p.Gln622=)
c.1842G>A (p.Gln614=)
c.1845G>A (p.Gln615=)
c.909G>A (p.Gln303=)
c.1863G>A (p.Gln621=)
c.1341G>A (p.Gln447=)
c.1698G>A (p.Gln566=)
c.1518G>A (p.Gln506=)
c.1503G>A (p.Gln501=)
c.1497G>A (p.Gln499=)
c.474G>A (p.Gln158=)
c.1320G>A (p.Gln440=)
1g.7820549G>CCA338145811PER3c.1866G>C (p.Gln622His)
c.1842G>C (p.Gln614His)
c.1845G>C (p.Gln615His)
c.909G>C (p.Gln303His)
c.1863G>C (p.Gln621His)
c.1341G>C (p.Gln447His)
c.1698G>C (p.Gln566His)
c.1518G>C (p.Gln506His)
c.1503G>C (p.Gln501His)
c.1497G>C (p.Gln499His)
c.474G>C (p.Gln158His)
c.1320G>C (p.Gln440His)
1g.7820549G>TCA338145813PER3c.1866G>T (p.Gln622His)
c.1842G>T (p.Gln614His)
c.1845G>T (p.Gln615His)
c.909G>T (p.Gln303His)
c.1863G>T (p.Gln621His)
c.1341G>T (p.Gln447His)
c.1698G>T (p.Gln566His)
c.1518G>T (p.Gln506His)
c.1503G>T (p.Gln501His)
c.1497G>T (p.Gln499His)
c.474G>T (p.Gln158His)
c.1320G>T (p.Gln440His)
1g.7820550A=CA1152100252PER3c.1867A= (p.Ile623=)
c.1843A= (p.Ile615=)
c.1846A= (p.Ile616=)
c.910A= (p.Ile304=)
c.1864A= (p.Ile622=)
c.1342A= (p.Ile448=)
c.1699A= (p.Ile567=)
c.1519A= (p.Ile507=)
c.1504A= (p.Ile502=)
c.1498A= (p.Ile500=)
c.475A= (p.Ile159=)
c.1321A= (p.Ile441=)
1g.7820550A>CCA338145819PER3c.1867A>C (p.Ile623Leu)
c.1843A>C (p.Ile615Leu)
c.1846A>C (p.Ile616Leu)
c.910A>C (p.Ile304Leu)
c.1864A>C (p.Ile622Leu)
c.1342A>C (p.Ile448Leu)
c.1699A>C (p.Ile567Leu)
c.1519A>C (p.Ile507Leu)
c.1504A>C (p.Ile502Leu)
c.1498A>C (p.Ile500Leu)
c.475A>C (p.Ile159Leu)
c.1321A>C (p.Ile441Leu)
1g.7820550A>GCA338145817PER3c.1867A>G (p.Ile623Val)
c.1843A>G (p.Ile615Val)
c.1846A>G (p.Ile616Val)
c.910A>G (p.Ile304Val)
c.1864A>G (p.Ile622Val)
c.1342A>G (p.Ile448Val)
c.1699A>G (p.Ile567Val)
c.1519A>G (p.Ile507Val)
c.1504A>G (p.Ile502Val)
c.1498A>G (p.Ile500Val)
c.475A>G (p.Ile159Val)
c.1321A>G (p.Ile441Val)
1g.7820550A>TCA338145816PER3c.1867A>T (p.Ile623Phe)
c.1843A>T (p.Ile615Phe)
c.1846A>T (p.Ile616Phe)
c.910A>T (p.Ile304Phe)
c.1864A>T (p.Ile622Phe)
c.1342A>T (p.Ile448Phe)
c.1699A>T (p.Ile567Phe)
c.1519A>T (p.Ile507Phe)
c.1504A>T (p.Ile502Phe)
c.1498A>T (p.Ile500Phe)
c.475A>T (p.Ile159Phe)
c.1321A>T (p.Ile441Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820551T>ACA338145822PER3c.1868T>A (p.Ile623Asn)
c.1844T>A (p.Ile615Asn)
c.1847T>A (p.Ile616Asn)
c.911T>A (p.Ile304Asn)
c.1865T>A (p.Ile622Asn)
c.1343T>A (p.Ile448Asn)
c.1700T>A (p.Ile567Asn)
c.1520T>A (p.Ile507Asn)
c.1505T>A (p.Ile502Asn)
c.1499T>A (p.Ile500Asn)
c.476T>A (p.Ile159Asn)
c.1322T>A (p.Ile441Asn)
1g.7820551T>CCA338145825PER3c.1868T>C (p.Ile623Thr)
c.1844T>C (p.Ile615Thr)
c.1847T>C (p.Ile616Thr)
c.911T>C (p.Ile304Thr)
c.1865T>C (p.Ile622Thr)
c.1343T>C (p.Ile448Thr)
c.1700T>C (p.Ile567Thr)
c.1520T>C (p.Ile507Thr)
c.1505T>C (p.Ile502Thr)
c.1499T>C (p.Ile500Thr)
c.476T>C (p.Ile159Thr)
c.1322T>C (p.Ile441Thr)
1g.7820551T>GCA338145823PER3c.1868T>G (p.Ile623Ser)
c.1844T>G (p.Ile615Ser)
c.1847T>G (p.Ile616Ser)
c.911T>G (p.Ile304Ser)
c.1865T>G (p.Ile622Ser)
c.1343T>G (p.Ile448Ser)
c.1700T>G (p.Ile567Ser)
c.1520T>G (p.Ile507Ser)
c.1505T>G (p.Ile502Ser)
c.1499T>G (p.Ile500Ser)
c.476T>G (p.Ile159Ser)
c.1322T>G (p.Ile441Ser)
 dbSNP
1g.7820551T=CA1152100257PER3c.1868T= (p.Ile623=)
c.1844T= (p.Ile615=)
c.1847T= (p.Ile616=)
c.911T= (p.Ile304=)
c.1865T= (p.Ile622=)
c.1343T= (p.Ile448=)
c.1700T= (p.Ile567=)
c.1520T= (p.Ile507=)
c.1505T= (p.Ile502=)
c.1499T= (p.Ile500=)
c.476T= (p.Ile159=)
c.1322T= (p.Ile441=)
1g.7820552C>ACA415839402PER3c.1869C>A (p.Ile623=)
c.1845C>A (p.Ile615=)
c.1848C>A (p.Ile616=)
c.912C>A (p.Ile304=)
c.1866C>A (p.Ile622=)
c.1344C>A (p.Ile448=)
c.1701C>A (p.Ile567=)
c.1521C>A (p.Ile507=)
c.1506C>A (p.Ile502=)
c.1500C>A (p.Ile500=)
c.477C>A (p.Ile159=)
c.1323C>A (p.Ile441=)
1g.7820552C>GCA338145828PER3c.1869C>G (p.Ile623Met)
c.1845C>G (p.Ile615Met)
c.1848C>G (p.Ile616Met)
c.912C>G (p.Ile304Met)
c.1866C>G (p.Ile622Met)
c.1344C>G (p.Ile448Met)
c.1701C>G (p.Ile567Met)
c.1521C>G (p.Ile507Met)
c.1506C>G (p.Ile502Met)
c.1500C>G (p.Ile500Met)
c.477C>G (p.Ile159Met)
c.1323C>G (p.Ile441Met)
1g.7820552C>TCA415839403PER3c.1869C>T (p.Ile623=)
c.1845C>T (p.Ile615=)
c.1848C>T (p.Ile616=)
c.912C>T (p.Ile304=)
c.1866C>T (p.Ile622=)
c.1344C>T (p.Ile448=)
c.1701C>T (p.Ile567=)
c.1521C>T (p.Ile507=)
c.1506C>T (p.Ile502=)
c.1500C>T (p.Ile500=)
c.477C>T (p.Ile159=)
c.1323C>T (p.Ile441=)
1g.7820553C>ACA338145829PER3c.1870C>A (p.Leu624Met)
c.1846C>A (p.Leu616Met)
c.1849C>A (p.Leu617Met)
c.913C>A (p.Leu305Met)
c.1867C>A (p.Leu623Met)
c.1345C>A (p.Leu449Met)
c.1702C>A (p.Leu568Met)
c.1522C>A (p.Leu508Met)
c.1507C>A (p.Leu503Met)
c.1501C>A (p.Leu501Met)
c.478C>A (p.Leu160Met)
c.1324C>A (p.Leu442Met)
1g.7820553C>GCA338145832PER3c.1870C>G (p.Leu624Val)
c.1846C>G (p.Leu616Val)
c.1849C>G (p.Leu617Val)
c.913C>G (p.Leu305Val)
c.1867C>G (p.Leu623Val)
c.1345C>G (p.Leu449Val)
c.1702C>G (p.Leu568Val)
c.1522C>G (p.Leu508Val)
c.1507C>G (p.Leu503Val)
c.1501C>G (p.Leu501Val)
c.478C>G (p.Leu160Val)
c.1324C>G (p.Leu442Val)
1g.7820553C>TCA415839405PER3c.1870C>T (p.Leu624=)
c.1846C>T (p.Leu616=)
c.1849C>T (p.Leu617=)
c.913C>T (p.Leu305=)
c.1867C>T (p.Leu623=)
c.1345C>T (p.Leu449=)
c.1702C>T (p.Leu568=)
c.1522C>T (p.Leu508=)
c.1507C>T (p.Leu503=)
c.1501C>T (p.Leu501=)
c.478C>T (p.Leu160=)
c.1324C>T (p.Leu442=)
 gnomAD v4
1g.7820554T>ACA338145835PER3c.1871T>A (p.Leu624Gln)
c.1847T>A (p.Leu616Gln)
c.1850T>A (p.Leu617Gln)
c.914T>A (p.Leu305Gln)
c.1868T>A (p.Leu623Gln)
c.1346T>A (p.Leu449Gln)
c.1703T>A (p.Leu568Gln)
c.1523T>A (p.Leu508Gln)
c.1508T>A (p.Leu503Gln)
c.1502T>A (p.Leu501Gln)
c.479T>A (p.Leu160Gln)
c.1325T>A (p.Leu442Gln)
1g.7820554T>CCA338145837PER3c.1871T>C (p.Leu624Pro)
c.1847T>C (p.Leu616Pro)
c.1850T>C (p.Leu617Pro)
c.914T>C (p.Leu305Pro)
c.1868T>C (p.Leu623Pro)
c.1346T>C (p.Leu449Pro)
c.1703T>C (p.Leu568Pro)
c.1523T>C (p.Leu508Pro)
c.1508T>C (p.Leu503Pro)
c.1502T>C (p.Leu501Pro)
c.479T>C (p.Leu160Pro)
c.1325T>C (p.Leu442Pro)
1g.7820554T>GCA338145838PER3c.1871T>G (p.Leu624Arg)
c.1847T>G (p.Leu616Arg)
c.1850T>G (p.Leu617Arg)
c.914T>G (p.Leu305Arg)
c.1868T>G (p.Leu623Arg)
c.1346T>G (p.Leu449Arg)
c.1703T>G (p.Leu568Arg)
c.1523T>G (p.Leu508Arg)
c.1508T>G (p.Leu503Arg)
c.1502T>G (p.Leu501Arg)
c.479T>G (p.Leu160Arg)
c.1325T>G (p.Leu442Arg)
1g.7820555G>ACA415839409PER3c.1872G>A (p.Leu624=)
c.1848G>A (p.Leu616=)
c.1851G>A (p.Leu617=)
c.915G>A (p.Leu305=)
c.1869G>A (p.Leu623=)
c.1347G>A (p.Leu449=)
c.1704G>A (p.Leu568=)
c.1524G>A (p.Leu508=)
c.1509G>A (p.Leu503=)
c.1503G>A (p.Leu501=)
c.480G>A (p.Leu160=)
c.1326G>A (p.Leu442=)
1g.7820555G>CCA415839410PER3c.1872G>C (p.Leu624=)
c.1848G>C (p.Leu616=)
c.1851G>C (p.Leu617=)
c.915G>C (p.Leu305=)
c.1869G>C (p.Leu623=)
c.1347G>C (p.Leu449=)
c.1704G>C (p.Leu568=)
c.1524G>C (p.Leu508=)
c.1509G>C (p.Leu503=)
c.1503G>C (p.Leu501=)
c.480G>C (p.Leu160=)
c.1326G>C (p.Leu442=)
1g.7820555G>TCA415839411PER3c.1872G>T (p.Leu624=)
c.1848G>T (p.Leu616=)
c.1851G>T (p.Leu617=)
c.915G>T (p.Leu305=)
c.1869G>T (p.Leu623=)
c.1347G>T (p.Leu449=)
c.1704G>T (p.Leu568=)
c.1524G>T (p.Leu508=)
c.1509G>T (p.Leu503=)
c.1503G>T (p.Leu501=)
c.480G>T (p.Leu160=)
c.1326G>T (p.Leu442=)
1g.7820556T>ACA338145841PER3c.1873T>A (p.Ser625Thr)
c.1849T>A (p.Ser617Thr)
c.1852T>A (p.Ser618Thr)
c.916T>A (p.Ser306Thr)
c.1870T>A (p.Ser624Thr)
c.1348T>A (p.Ser450Thr)
c.1705T>A (p.Ser569Thr)
c.1525T>A (p.Ser509Thr)
c.1510T>A (p.Ser504Thr)
c.1504T>A (p.Ser502Thr)
c.481T>A (p.Ser161Thr)
c.1327T>A (p.Ser443Thr)
1g.7820556T>CCA338145842PER3c.1873T>C (p.Ser625Pro)
c.1849T>C (p.Ser617Pro)
c.1852T>C (p.Ser618Pro)
c.916T>C (p.Ser306Pro)
c.1870T>C (p.Ser624Pro)
c.1348T>C (p.Ser450Pro)
c.1705T>C (p.Ser569Pro)
c.1525T>C (p.Ser509Pro)
c.1510T>C (p.Ser504Pro)
c.1504T>C (p.Ser502Pro)
c.481T>C (p.Ser161Pro)
c.1327T>C (p.Ser443Pro)
1g.7820556T>GCA338145844PER3c.1873T>G (p.Ser625Ala)
c.1849T>G (p.Ser617Ala)
c.1852T>G (p.Ser618Ala)
c.916T>G (p.Ser306Ala)
c.1870T>G (p.Ser624Ala)
c.1348T>G (p.Ser450Ala)
c.1705T>G (p.Ser569Ala)
c.1525T>G (p.Ser509Ala)
c.1510T>G (p.Ser504Ala)
c.1504T>G (p.Ser502Ala)
c.481T>G (p.Ser161Ala)
c.1327T>G (p.Ser443Ala)
1g.7820557C>ACA338145847PER3c.1874C>A (p.Ser625Tyr)
c.1850C>A (p.Ser617Tyr)
c.1853C>A (p.Ser618Tyr)
c.917C>A (p.Ser306Tyr)
c.1871C>A (p.Ser624Tyr)
c.1349C>A (p.Ser450Tyr)
c.1706C>A (p.Ser569Tyr)
c.1526C>A (p.Ser509Tyr)
c.1511C>A (p.Ser504Tyr)
c.1505C>A (p.Ser502Tyr)
c.482C>A (p.Ser161Tyr)
c.1328C>A (p.Ser443Tyr)
1g.7820557C=CA1152100261PER3c.1874C= (p.Ser625=)
c.1850C= (p.Ser617=)
c.1853C= (p.Ser618=)
c.917C= (p.Ser306=)
c.1871C= (p.Ser624=)
c.1349C= (p.Ser450=)
c.1706C= (p.Ser569=)
c.1526C= (p.Ser509=)
c.1511C= (p.Ser504=)
c.1505C= (p.Ser502=)
c.482C= (p.Ser161=)
c.1328C= (p.Ser443=)
1g.7820557C>GCA338145848PER3c.1874C>G (p.Ser625Cys)
c.1850C>G (p.Ser617Cys)
c.1853C>G (p.Ser618Cys)
c.917C>G (p.Ser306Cys)
c.1871C>G (p.Ser624Cys)
c.1349C>G (p.Ser450Cys)
c.1706C>G (p.Ser569Cys)
c.1526C>G (p.Ser509Cys)
c.1511C>G (p.Ser504Cys)
c.1505C>G (p.Ser502Cys)
c.482C>G (p.Ser161Cys)
c.1328C>G (p.Ser443Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820557C>TCA338145850PER3c.1874C>T (p.Ser625Phe)
c.1850C>T (p.Ser617Phe)
c.1853C>T (p.Ser618Phe)
c.917C>T (p.Ser306Phe)
c.1871C>T (p.Ser624Phe)
c.1349C>T (p.Ser450Phe)
c.1706C>T (p.Ser569Phe)
c.1526C>T (p.Ser509Phe)
c.1511C>T (p.Ser504Phe)
c.1505C>T (p.Ser502Phe)
c.482C>T (p.Ser161Phe)
c.1328C>T (p.Ser443Phe)
1g.7820558C>ACA415839413PER3c.1875C>A (p.Ser625=)
c.1851C>A (p.Ser617=)
c.1854C>A (p.Ser618=)
c.918C>A (p.Ser306=)
c.1872C>A (p.Ser624=)
c.1350C>A (p.Ser450=)
c.1707C>A (p.Ser569=)
c.1527C>A (p.Ser509=)
c.1512C>A (p.Ser504=)
c.1506C>A (p.Ser502=)
c.483C>A (p.Ser161=)
c.1329C>A (p.Ser443=)
1g.7820558C>GCA415839414PER3c.1875C>G (p.Ser625=)
c.1851C>G (p.Ser617=)
c.1854C>G (p.Ser618=)
c.918C>G (p.Ser306=)
c.1872C>G (p.Ser624=)
c.1350C>G (p.Ser450=)
c.1707C>G (p.Ser569=)
c.1527C>G (p.Ser509=)
c.1512C>G (p.Ser504=)
c.1506C>G (p.Ser502=)
c.483C>G (p.Ser161=)
c.1329C>G (p.Ser443=)
1g.7820558C>TCA415839415PER3c.1875C>T (p.Ser625=)
c.1851C>T (p.Ser617=)
c.1854C>T (p.Ser618=)
c.918C>T (p.Ser306=)
c.1872C>T (p.Ser624=)
c.1350C>T (p.Ser450=)
c.1707C>T (p.Ser569=)
c.1527C>T (p.Ser509=)
c.1512C>T (p.Ser504=)
c.1506C>T (p.Ser502=)
c.483C>T (p.Ser161=)
c.1329C>T (p.Ser443=)
1g.7820559A>CCA338145857PER3c.1876A>C (p.Thr626Pro)
c.1852A>C (p.Thr618Pro)
c.1855A>C (p.Thr619Pro)
c.919A>C (p.Thr307Pro)
c.1873A>C (p.Thr625Pro)
c.1351A>C (p.Thr451Pro)
c.1708A>C (p.Thr570Pro)
c.1528A>C (p.Thr510Pro)
c.1513A>C (p.Thr505Pro)
c.1507A>C (p.Thr503Pro)
c.484A>C (p.Thr162Pro)
c.1330A>C (p.Thr444Pro)
1g.7820559A>GCA338145853PER3c.1876A>G (p.Thr626Ala)
c.1852A>G (p.Thr618Ala)
c.1855A>G (p.Thr619Ala)
c.919A>G (p.Thr307Ala)
c.1873A>G (p.Thr625Ala)
c.1351A>G (p.Thr451Ala)
c.1708A>G (p.Thr570Ala)
c.1528A>G (p.Thr510Ala)
c.1513A>G (p.Thr505Ala)
c.1507A>G (p.Thr503Ala)
c.484A>G (p.Thr162Ala)
c.1330A>G (p.Thr444Ala)
 gnomAD v4
1g.7820559A>TCA338145855PER3c.1876A>T (p.Thr626Ser)
c.1852A>T (p.Thr618Ser)
c.1855A>T (p.Thr619Ser)
c.919A>T (p.Thr307Ser)
c.1873A>T (p.Thr625Ser)
c.1351A>T (p.Thr451Ser)
c.1708A>T (p.Thr570Ser)
c.1528A>T (p.Thr510Ser)
c.1513A>T (p.Thr505Ser)
c.1507A>T (p.Thr503Ser)
c.484A>T (p.Thr162Ser)
c.1330A>T (p.Thr444Ser)
1g.7820560C>ACA338145860PER3c.1877C>A (p.Thr626Lys)
c.1853C>A (p.Thr618Lys)
c.1856C>A (p.Thr619Lys)
c.920C>A (p.Thr307Lys)
c.1874C>A (p.Thr625Lys)
c.1352C>A (p.Thr451Lys)
c.1709C>A (p.Thr570Lys)
c.1529C>A (p.Thr510Lys)
c.1514C>A (p.Thr505Lys)
c.1508C>A (p.Thr503Lys)
c.485C>A (p.Thr162Lys)
c.1331C>A (p.Thr444Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820560C=CA1152100266PER3c.1877C= (p.Thr626=)
c.1853C= (p.Thr618=)
c.1856C= (p.Thr619=)
c.920C= (p.Thr307=)
c.1874C= (p.Thr625=)
c.1352C= (p.Thr451=)
c.1709C= (p.Thr570=)
c.1529C= (p.Thr510=)
c.1514C= (p.Thr505=)
c.1508C= (p.Thr503=)
c.485C= (p.Thr162=)
c.1331C= (p.Thr444=)
1g.7820560C>GCA338145862PER3c.1877C>G (p.Thr626Arg)
c.1853C>G (p.Thr618Arg)
c.1856C>G (p.Thr619Arg)
c.920C>G (p.Thr307Arg)
c.1874C>G (p.Thr625Arg)
c.1352C>G (p.Thr451Arg)
c.1709C>G (p.Thr570Arg)
c.1529C>G (p.Thr510Arg)
c.1514C>G (p.Thr505Arg)
c.1508C>G (p.Thr503Arg)
c.485C>G (p.Thr162Arg)
c.1331C>G (p.Thr444Arg)
1g.7820560C>TCA568233PER3c.1877C>T (p.Thr626Met)
c.1853C>T (p.Thr618Met)
c.1856C>T (p.Thr619Met)
c.920C>T (p.Thr307Met)
c.1874C>T (p.Thr625Met)
c.1352C>T (p.Thr451Met)
c.1709C>T (p.Thr570Met)
c.1529C>T (p.Thr510Met)
c.1514C>T (p.Thr505Met)
c.1508C>T (p.Thr503Met)
c.485C>T (p.Thr162Met)
c.1331C>T (p.Thr444Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820561G>ACA568234PER3c.1878G>A (p.Thr626=)
c.1854G>A (p.Thr618=)
c.1857G>A (p.Thr619=)
c.921G>A (p.Thr307=)
c.1875G>A (p.Thr625=)
c.1353G>A (p.Thr451=)
c.1710G>A (p.Thr570=)
c.1530G>A (p.Thr510=)
c.1515G>A (p.Thr505=)
c.1509G>A (p.Thr503=)
c.486G>A (p.Thr162=)
c.1332G>A (p.Thr444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820561G>CCA415839417PER3c.1878G>C (p.Thr626=)
c.1854G>C (p.Thr618=)
c.1857G>C (p.Thr619=)
c.921G>C (p.Thr307=)
c.1875G>C (p.Thr625=)
c.1353G>C (p.Thr451=)
c.1710G>C (p.Thr570=)
c.1530G>C (p.Thr510=)
c.1515G>C (p.Thr505=)
c.1509G>C (p.Thr503=)
c.486G>C (p.Thr162=)
c.1332G>C (p.Thr444=)
1g.7820561G=CA1152100268PER3c.1878G= (p.Thr626=)
c.1854G= (p.Thr618=)
c.1857G= (p.Thr619=)
c.921G= (p.Thr307=)
c.1875G= (p.Thr625=)
c.1353G= (p.Thr451=)
c.1710G= (p.Thr570=)
c.1530G= (p.Thr510=)
c.1515G= (p.Thr505=)
c.1509G= (p.Thr503=)
c.486G= (p.Thr162=)
c.1332G= (p.Thr444=)
1g.7820561G>TCA415839418PER3c.1878G>T (p.Thr626=)
c.1854G>T (p.Thr618=)
c.1857G>T (p.Thr619=)
c.921G>T (p.Thr307=)
c.1875G>T (p.Thr625=)
c.1353G>T (p.Thr451=)
c.1710G>T (p.Thr570=)
c.1530G>T (p.Thr510=)
c.1515G>T (p.Thr505=)
c.1509G>T (p.Thr503=)
c.486G>T (p.Thr162=)
c.1332G>T (p.Thr444=)
1g.7820562G>ACA338145866PER3c.1879G>A (p.Ala627Thr)
c.1855G>A (p.Ala619Thr)
c.1858G>A (p.Ala620Thr)
c.922G>A (p.Ala308Thr)
c.1876G>A (p.Ala626Thr)
c.1354G>A (p.Ala452Thr)
c.1711G>A (p.Ala571Thr)
c.1531G>A (p.Ala511Thr)
c.1516G>A (p.Ala506Thr)
c.1510G>A (p.Ala504Thr)
c.487G>A (p.Ala163Thr)
c.1333G>A (p.Ala445Thr)
 gnomAD v4
1g.7820562G>CCA338145868PER3c.1879G>C (p.Ala627Pro)
c.1855G>C (p.Ala619Pro)
c.1858G>C (p.Ala620Pro)
c.922G>C (p.Ala308Pro)
c.1876G>C (p.Ala626Pro)
c.1354G>C (p.Ala452Pro)
c.1711G>C (p.Ala571Pro)
c.1531G>C (p.Ala511Pro)
c.1516G>C (p.Ala506Pro)
c.1510G>C (p.Ala504Pro)
c.487G>C (p.Ala163Pro)
c.1333G>C (p.Ala445Pro)
1g.7820562G>TCA338145871PER3c.1879G>T (p.Ala627Ser)
c.1855G>T (p.Ala619Ser)
c.1858G>T (p.Ala620Ser)
c.922G>T (p.Ala308Ser)
c.1876G>T (p.Ala626Ser)
c.1354G>T (p.Ala452Ser)
c.1711G>T (p.Ala571Ser)
c.1531G>T (p.Ala511Ser)
c.1516G>T (p.Ala506Ser)
c.1510G>T (p.Ala504Ser)
c.487G>T (p.Ala163Ser)
c.1333G>T (p.Ala445Ser)
1g.7820563C>ACA338145873PER3c.1880C>A (p.Ala627Glu)
c.1856C>A (p.Ala619Glu)
c.1859C>A (p.Ala620Glu)
c.923C>A (p.Ala308Glu)
c.1877C>A (p.Ala626Glu)
c.1355C>A (p.Ala452Glu)
c.1712C>A (p.Ala571Glu)
c.1532C>A (p.Ala511Glu)
c.1517C>A (p.Ala506Glu)
c.1511C>A (p.Ala504Glu)
c.488C>A (p.Ala163Glu)
c.1334C>A (p.Ala445Glu)
1g.7820563C=CA1152100272PER3c.1880C= (p.Ala627=)
c.1856C= (p.Ala619=)
c.1859C= (p.Ala620=)
c.923C= (p.Ala308=)
c.1877C= (p.Ala626=)
c.1355C= (p.Ala452=)
c.1712C= (p.Ala571=)
c.1532C= (p.Ala511=)
c.1517C= (p.Ala506=)
c.1511C= (p.Ala504=)
c.488C= (p.Ala163=)
c.1334C= (p.Ala445=)
1g.7820563C>GCA568236PER3c.1880C>G (p.Ala627Gly)
c.1856C>G (p.Ala619Gly)
c.1859C>G (p.Ala620Gly)
c.923C>G (p.Ala308Gly)
c.1877C>G (p.Ala626Gly)
c.1355C>G (p.Ala452Gly)
c.1712C>G (p.Ala571Gly)
c.1532C>G (p.Ala511Gly)
c.1517C>G (p.Ala506Gly)
c.1511C>G (p.Ala504Gly)
c.488C>G (p.Ala163Gly)
c.1334C>G (p.Ala445Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820563C>TCA568235PER3c.1880C>T (p.Ala627Val)
c.1856C>T (p.Ala619Val)
c.1859C>T (p.Ala620Val)
c.923C>T (p.Ala308Val)
c.1877C>T (p.Ala626Val)
c.1355C>T (p.Ala452Val)
c.1712C>T (p.Ala571Val)
c.1532C>T (p.Ala511Val)
c.1517C>T (p.Ala506Val)
c.1511C>T (p.Ala504Val)
c.488C>T (p.Ala163Val)
c.1334C>T (p.Ala445Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7820564G>ACA568237PER3c.1881G>A (p.Ala627=)
c.1857G>A (p.Ala619=)
c.1860G>A (p.Ala620=)
c.924G>A (p.Ala308=)
c.1878G>A (p.Ala626=)
c.1356G>A (p.Ala452=)
c.1713G>A (p.Ala571=)
c.1533G>A (p.Ala511=)
c.1518G>A (p.Ala506=)
c.1512G>A (p.Ala504=)
c.489G>A (p.Ala163=)
c.1335G>A (p.Ala445=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820564G>CCA415839422PER3c.1881G>C (p.Ala627=)
c.1857G>C (p.Ala619=)
c.1860G>C (p.Ala620=)
c.924G>C (p.Ala308=)
c.1878G>C (p.Ala626=)
c.1356G>C (p.Ala452=)
c.1713G>C (p.Ala571=)
c.1533G>C (p.Ala511=)
c.1518G>C (p.Ala506=)
c.1512G>C (p.Ala504=)
c.489G>C (p.Ala163=)
c.1335G>C (p.Ala445=)
1g.7820564G=CA1145101941PER3c.1881G= (p.Ala627=)
c.1857G= (p.Ala619=)
c.1860G= (p.Ala620=)
c.924G= (p.Ala308=)
c.1878G= (p.Ala626=)
c.1356G= (p.Ala452=)
c.1713G= (p.Ala571=)
c.1533G= (p.Ala511=)
c.1518G= (p.Ala506=)
c.1512G= (p.Ala504=)
c.489G= (p.Ala163=)
c.1335G= (p.Ala445=)
1g.7820564G>TCA415839423PER3c.1881G>T (p.Ala627=)
c.1857G>T (p.Ala619=)
c.1860G>T (p.Ala620=)
c.924G>T (p.Ala308=)
c.1878G>T (p.Ala626=)
c.1356G>T (p.Ala452=)
c.1713G>T (p.Ala571=)
c.1533G>T (p.Ala511=)
c.1518G>T (p.Ala506=)
c.1512G>T (p.Ala504=)
c.489G>T (p.Ala163=)
c.1335G>T (p.Ala445=)
1g.7820565A>CCA338145881PER3c.1882A>C (p.Met628Leu)
c.1858A>C (p.Met620Leu)
c.1861A>C (p.Met621Leu)
c.925A>C (p.Met309Leu)
c.1879A>C (p.Met627Leu)
c.1357A>C (p.Met453Leu)
c.1714A>C (p.Met572Leu)
c.1534A>C (p.Met512Leu)
c.1519A>C (p.Met507Leu)
c.1513A>C (p.Met505Leu)
c.490A>C (p.Met164Leu)
c.1336A>C (p.Met446Leu)
 gnomAD v4
1g.7820565A>GCA338145880PER3c.1882A>G (p.Met628Val)
c.1858A>G (p.Met620Val)
c.1861A>G (p.Met621Val)
c.925A>G (p.Met309Val)
c.1879A>G (p.Met627Val)
c.1357A>G (p.Met453Val)
c.1714A>G (p.Met572Val)
c.1534A>G (p.Met512Val)
c.1519A>G (p.Met507Val)
c.1513A>G (p.Met505Val)
c.490A>G (p.Met164Val)
c.1336A>G (p.Met446Val)
1g.7820565A>TCA338145879PER3c.1882A>T (p.Met628Leu)
c.1858A>T (p.Met620Leu)
c.1861A>T (p.Met621Leu)
c.925A>T (p.Met309Leu)
c.1879A>T (p.Met627Leu)
c.1357A>T (p.Met453Leu)
c.1714A>T (p.Met572Leu)
c.1534A>T (p.Met512Leu)
c.1519A>T (p.Met507Leu)
c.1513A>T (p.Met505Leu)
c.490A>T (p.Met164Leu)
c.1336A>T (p.Met446Leu)
1g.7820565dupCA2574197960PER3c.1882dup (p.Met628AsnfsTer?)
c.1858dup (p.Met620AsnfsTer?)
c.1861dup (p.Met621AsnfsTer?)
c.925dup (p.Met309AsnfsTer?)
c.1879dup (p.Met627AsnfsTer?)
c.1357dup (p.Met453AsnfsTer?)
c.1714dup (p.Met572AsnfsTer?)
c.1534dup (p.Met512AsnfsTer?)
c.1519dup (p.Met507AsnfsTer?)
c.1513dup (p.Met505AsnfsTer?)
c.490dup (p.Met164AsnfsTer?)
c.1336dup (p.Met446AsnfsTer?)
1g.7820566T>ACA338145886PER3c.1883T>A (p.Met628Lys)
c.1859T>A (p.Met620Lys)
c.1862T>A (p.Met621Lys)
c.926T>A (p.Met309Lys)
c.1880T>A (p.Met627Lys)
c.1358T>A (p.Met453Lys)
c.1715T>A (p.Met572Lys)
c.1535T>A (p.Met512Lys)
c.1520T>A (p.Met507Lys)
c.1514T>A (p.Met505Lys)
c.491T>A (p.Met164Lys)
c.1337T>A (p.Met446Lys)
1g.7820566T>CCA338145883PER3c.1883T>C (p.Met628Thr)
c.1859T>C (p.Met620Thr)
c.1862T>C (p.Met621Thr)
c.926T>C (p.Met309Thr)
c.1880T>C (p.Met627Thr)
c.1358T>C (p.Met453Thr)
c.1715T>C (p.Met572Thr)
c.1535T>C (p.Met512Thr)
c.1520T>C (p.Met507Thr)
c.1514T>C (p.Met505Thr)
c.491T>C (p.Met164Thr)
c.1337T>C (p.Met446Thr)
1g.7820566T>GCA338145885PER3c.1883T>G (p.Met628Arg)
c.1859T>G (p.Met620Arg)
c.1862T>G (p.Met621Arg)
c.926T>G (p.Met309Arg)
c.1880T>G (p.Met627Arg)
c.1358T>G (p.Met453Arg)
c.1715T>G (p.Met572Arg)
c.1535T>G (p.Met512Arg)
c.1520T>G (p.Met507Arg)
c.1514T>G (p.Met505Arg)
c.491T>G (p.Met164Arg)
c.1337T>G (p.Met446Arg)
1g.7820567G>ACA338145889PER3c.1884G>A (p.Met628Ile)
c.1860G>A (p.Met620Ile)
c.1863G>A (p.Met621Ile)
c.927G>A (p.Met309Ile)
c.1881G>A (p.Met627Ile)
c.1359G>A (p.Met453Ile)
c.1716G>A (p.Met572Ile)
c.1536G>A (p.Met512Ile)
c.1521G>A (p.Met507Ile)
c.1515G>A (p.Met505Ile)
c.492G>A (p.Met164Ile)
c.1338G>A (p.Met446Ile)
1g.7820567G>CCA338145891PER3c.1884G>C (p.Met628Ile)
c.1860G>C (p.Met620Ile)
c.1863G>C (p.Met621Ile)
c.927G>C (p.Met309Ile)
c.1881G>C (p.Met627Ile)
c.1359G>C (p.Met453Ile)
c.1716G>C (p.Met572Ile)
c.1536G>C (p.Met512Ile)
c.1521G>C (p.Met507Ile)
c.1515G>C (p.Met505Ile)
c.492G>C (p.Met164Ile)
c.1338G>C (p.Met446Ile)
1g.7820567G>TCA338145892PER3c.1884G>T (p.Met628Ile)
c.1860G>T (p.Met620Ile)
c.1863G>T (p.Met621Ile)
c.927G>T (p.Met309Ile)
c.1881G>T (p.Met627Ile)
c.1359G>T (p.Met453Ile)
c.1716G>T (p.Met572Ile)
c.1536G>T (p.Met512Ile)
c.1521G>T (p.Met507Ile)
c.1515G>T (p.Met505Ile)
c.492G>T (p.Met164Ile)
c.1338G>T (p.Met446Ile)
1g.7820568C>ACA338145894PER3c.1885C>A (p.Leu629Met)
c.1861C>A (p.Leu621Met)
c.1864C>A (p.Leu622Met)
c.928C>A (p.Leu310Met)
c.1882C>A (p.Leu628Met)
c.1360C>A (p.Leu454Met)
c.1717C>A (p.Leu573Met)
c.1537C>A (p.Leu513Met)
c.1522C>A (p.Leu508Met)
c.1516C>A (p.Leu506Met)
c.493C>A (p.Leu165Met)
c.1339C>A (p.Leu447Met)
1g.7820568C>GCA338145896PER3c.1885C>G (p.Leu629Val)
c.1861C>G (p.Leu621Val)
c.1864C>G (p.Leu622Val)
c.928C>G (p.Leu310Val)
c.1882C>G (p.Leu628Val)
c.1360C>G (p.Leu454Val)
c.1717C>G (p.Leu573Val)
c.1537C>G (p.Leu513Val)
c.1522C>G (p.Leu508Val)
c.1516C>G (p.Leu506Val)
c.493C>G (p.Leu165Val)
c.1339C>G (p.Leu447Val)
1g.7820568C>TCA415839425PER3c.1885C>T (p.Leu629=)
c.1861C>T (p.Leu621=)
c.1864C>T (p.Leu622=)
c.928C>T (p.Leu310=)
c.1882C>T (p.Leu628=)
c.1360C>T (p.Leu454=)
c.1717C>T (p.Leu573=)
c.1537C>T (p.Leu513=)
c.1522C>T (p.Leu508=)
c.1516C>T (p.Leu506=)
c.493C>T (p.Leu165=)
c.1339C>T (p.Leu447=)
1g.7820569T>ACA338145898PER3c.1886T>A (p.Leu629Gln)
c.1862T>A (p.Leu621Gln)
c.1865T>A (p.Leu622Gln)
c.929T>A (p.Leu310Gln)
c.1883T>A (p.Leu628Gln)
c.1361T>A (p.Leu454Gln)
c.1718T>A (p.Leu573Gln)
c.1538T>A (p.Leu513Gln)
c.1523T>A (p.Leu508Gln)
c.1517T>A (p.Leu506Gln)
c.494T>A (p.Leu165Gln)
c.1340T>A (p.Leu447Gln)
1g.7820569T>CCA338145900PER3c.1886T>C (p.Leu629Pro)
c.1862T>C (p.Leu621Pro)
c.1865T>C (p.Leu622Pro)
c.929T>C (p.Leu310Pro)
c.1883T>C (p.Leu628Pro)
c.1361T>C (p.Leu454Pro)
c.1718T>C (p.Leu573Pro)
c.1538T>C (p.Leu513Pro)
c.1523T>C (p.Leu508Pro)
c.1517T>C (p.Leu506Pro)
c.494T>C (p.Leu165Pro)
c.1340T>C (p.Leu447Pro)
 dbSNP
1g.7820569T>GCA338145902PER3c.1886T>G (p.Leu629Arg)
c.1862T>G (p.Leu621Arg)
c.1865T>G (p.Leu622Arg)
c.929T>G (p.Leu310Arg)
c.1883T>G (p.Leu628Arg)
c.1361T>G (p.Leu454Arg)
c.1718T>G (p.Leu573Arg)
c.1538T>G (p.Leu513Arg)
c.1523T>G (p.Leu508Arg)
c.1517T>G (p.Leu506Arg)
c.494T>G (p.Leu165Arg)
c.1340T>G (p.Leu447Arg)
1g.7820570G>ACA415839427PER3c.1887G>A (p.Leu629=)
c.1863G>A (p.Leu621=)
c.1866G>A (p.Leu622=)
c.930G>A (p.Leu310=)
c.1884G>A (p.Leu628=)
c.1362G>A (p.Leu454=)
c.1719G>A (p.Leu573=)
c.1539G>A (p.Leu513=)
c.1524G>A (p.Leu508=)
c.1518G>A (p.Leu506=)
c.495G>A (p.Leu165=)
c.1341G>A (p.Leu447=)
1g.7820570G>CCA415839429PER3c.1887G>C (p.Leu629=)
c.1863G>C (p.Leu621=)
c.1866G>C (p.Leu622=)
c.930G>C (p.Leu310=)
c.1884G>C (p.Leu628=)
c.1362G>C (p.Leu454=)
c.1719G>C (p.Leu573=)
c.1539G>C (p.Leu513=)
c.1524G>C (p.Leu508=)
c.1518G>C (p.Leu506=)
c.495G>C (p.Leu165=)
c.1341G>C (p.Leu447=)
1g.7820570G>TCA415839428PER3c.1887G>T (p.Leu629=)
c.1863G>T (p.Leu621=)
c.1866G>T (p.Leu622=)
c.930G>T (p.Leu310=)
c.1884G>T (p.Leu628=)
c.1362G>T (p.Leu454=)
c.1719G>T (p.Leu573=)
c.1539G>T (p.Leu513=)
c.1524G>T (p.Leu508=)
c.1518G>T (p.Leu506=)
c.495G>T (p.Leu165=)
c.1341G>T (p.Leu447=)
1g.7820571A>CCA338145904PER3c.1888A>C (p.Ser630Arg)
c.1864A>C (p.Ser622Arg)
c.1867A>C (p.Ser623Arg)
c.931A>C (p.Ser311Arg)
c.1885A>C (p.Ser629Arg)
c.1363A>C (p.Ser455Arg)
c.1720A>C (p.Ser574Arg)
c.1540A>C (p.Ser514Arg)
c.1525A>C (p.Ser509Arg)
c.1519A>C (p.Ser507Arg)
c.496A>C (p.Ser166Arg)
c.1342A>C (p.Ser448Arg)
1g.7820571A>GCA338145906PER3c.1888A>G (p.Ser630Gly)
c.1864A>G (p.Ser622Gly)
c.1867A>G (p.Ser623Gly)
c.931A>G (p.Ser311Gly)
c.1885A>G (p.Ser629Gly)
c.1363A>G (p.Ser455Gly)
c.1720A>G (p.Ser574Gly)
c.1540A>G (p.Ser514Gly)
c.1525A>G (p.Ser509Gly)
c.1519A>G (p.Ser507Gly)
c.496A>G (p.Ser166Gly)
c.1342A>G (p.Ser448Gly)
1g.7820571A>TCA338145908PER3c.1888A>T (p.Ser630Cys)
c.1864A>T (p.Ser622Cys)
c.1867A>T (p.Ser623Cys)
c.931A>T (p.Ser311Cys)
c.1885A>T (p.Ser629Cys)
c.1363A>T (p.Ser455Cys)
c.1720A>T (p.Ser574Cys)
c.1540A>T (p.Ser514Cys)
c.1525A>T (p.Ser509Cys)
c.1519A>T (p.Ser507Cys)
c.496A>T (p.Ser166Cys)
c.1342A>T (p.Ser448Cys)
1g.7820572G>ACA338145913PER3c.1889G>A (p.Ser630Asn)
c.1865G>A (p.Ser622Asn)
c.1868G>A (p.Ser623Asn)
c.932G>A (p.Ser311Asn)
c.1886G>A (p.Ser629Asn)
c.1364G>A (p.Ser455Asn)
c.1721G>A (p.Ser574Asn)
c.1541G>A (p.Ser514Asn)
c.1526G>A (p.Ser509Asn)
c.1520G>A (p.Ser507Asn)
c.497G>A (p.Ser166Asn)
c.1343G>A (p.Ser448Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820572G>CCA568238PER3c.1889G>C (p.Ser630Thr)
c.1865G>C (p.Ser622Thr)
c.1868G>C (p.Ser623Thr)
c.932G>C (p.Ser311Thr)
c.1886G>C (p.Ser629Thr)
c.1364G>C (p.Ser455Thr)
c.1721G>C (p.Ser574Thr)
c.1541G>C (p.Ser514Thr)
c.1526G>C (p.Ser509Thr)
c.1520G>C (p.Ser507Thr)
c.497G>C (p.Ser166Thr)
c.1343G>C (p.Ser448Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820572G=CA1152100279PER3c.1889G= (p.Ser630=)
c.1865G= (p.Ser622=)
c.1868G= (p.Ser623=)
c.932G= (p.Ser311=)
c.1886G= (p.Ser629=)
c.1364G= (p.Ser455=)
c.1721G= (p.Ser574=)
c.1541G= (p.Ser514=)
c.1526G= (p.Ser509=)
c.1520G= (p.Ser507=)
c.497G= (p.Ser166=)
c.1343G= (p.Ser448=)
1g.7820572G>TCA338145911PER3c.1889G>T (p.Ser630Ile)
c.1865G>T (p.Ser622Ile)
c.1868G>T (p.Ser623Ile)
c.932G>T (p.Ser311Ile)
c.1886G>T (p.Ser629Ile)
c.1364G>T (p.Ser455Ile)
c.1721G>T (p.Ser574Ile)
c.1541G>T (p.Ser514Ile)
c.1526G>T (p.Ser509Ile)
c.1520G>T (p.Ser507Ile)
c.497G>T (p.Ser166Ile)
c.1343G>T (p.Ser448Ile)
1g.7820573C>ACA338145915PER3c.1890C>A (p.Ser630Arg)
c.1866C>A (p.Ser622Arg)
c.1869C>A (p.Ser623Arg)
c.933C>A (p.Ser311Arg)
c.1887C>A (p.Ser629Arg)
c.1365C>A (p.Ser455Arg)
c.1722C>A (p.Ser574Arg)
c.1542C>A (p.Ser514Arg)
c.1527C>A (p.Ser509Arg)
c.1521C>A (p.Ser507Arg)
c.498C>A (p.Ser166Arg)
c.1344C>A (p.Ser448Arg)
1g.7820573C>GCA338145917PER3c.1890C>G (p.Ser630Arg)
c.1866C>G (p.Ser622Arg)
c.1869C>G (p.Ser623Arg)
c.933C>G (p.Ser311Arg)
c.1887C>G (p.Ser629Arg)
c.1365C>G (p.Ser455Arg)
c.1722C>G (p.Ser574Arg)
c.1542C>G (p.Ser514Arg)
c.1527C>G (p.Ser509Arg)
c.1521C>G (p.Ser507Arg)
c.498C>G (p.Ser166Arg)
c.1344C>G (p.Ser448Arg)
 gnomAD v4
1g.7820573C>TCA415839431PER3c.1890C>T (p.Ser630=)
c.1866C>T (p.Ser622=)
c.1869C>T (p.Ser623=)
c.933C>T (p.Ser311=)
c.1887C>T (p.Ser629=)
c.1365C>T (p.Ser455=)
c.1722C>T (p.Ser574=)
c.1542C>T (p.Ser514=)
c.1527C>T (p.Ser509=)
c.1521C>T (p.Ser507=)
c.498C>T (p.Ser166=)
c.1344C>T (p.Ser448=)
1g.7820574T>ACA338145919PER3c.1891T>A (p.Leu631Met)
c.1867T>A (p.Leu623Met)
c.1870T>A (p.Leu624Met)
c.934T>A (p.Leu312Met)
c.1888T>A (p.Leu630Met)
c.1366T>A (p.Leu456Met)
c.1723T>A (p.Leu575Met)
c.1543T>A (p.Leu515Met)
c.1528T>A (p.Leu510Met)
c.1522T>A (p.Leu508Met)
c.499T>A (p.Leu167Met)
c.1345T>A (p.Leu449Met)
1g.7820574T>CCA415839432PER3c.1891T>C (p.Leu631=)
c.1867T>C (p.Leu623=)
c.1870T>C (p.Leu624=)
c.934T>C (p.Leu312=)
c.1888T>C (p.Leu630=)
c.1366T>C (p.Leu456=)
c.1723T>C (p.Leu575=)
c.1543T>C (p.Leu515=)
c.1528T>C (p.Leu510=)
c.1522T>C (p.Leu508=)
c.499T>C (p.Leu167=)
c.1345T>C (p.Leu449=)
1g.7820574T>GCA338145921PER3c.1891T>G (p.Leu631Val)
c.1867T>G (p.Leu623Val)
c.1870T>G (p.Leu624Val)
c.934T>G (p.Leu312Val)
c.1888T>G (p.Leu630Val)
c.1366T>G (p.Leu456Val)
c.1723T>G (p.Leu575Val)
c.1543T>G (p.Leu515Val)
c.1528T>G (p.Leu510Val)
c.1522T>G (p.Leu508Val)
c.499T>G (p.Leu167Val)
c.1345T>G (p.Leu449Val)
1g.7820575T>ACA338145922PER3c.1892T>A (p.Leu631Ter)
c.1868T>A (p.Leu623Ter)
c.1871T>A (p.Leu624Ter)
c.935T>A (p.Leu312Ter)
c.1889T>A (p.Leu630Ter)
c.1367T>A (p.Leu456Ter)
c.1724T>A (p.Leu575Ter)
c.1544T>A (p.Leu515Ter)
c.1529T>A (p.Leu510Ter)
c.1523T>A (p.Leu508Ter)
c.500T>A (p.Leu167Ter)
c.1346T>A (p.Leu449Ter)
1g.7820575T>CCA338145924PER3c.1892T>C (p.Leu631Ser)
c.1868T>C (p.Leu623Ser)
c.1871T>C (p.Leu624Ser)
c.935T>C (p.Leu312Ser)
c.1889T>C (p.Leu630Ser)
c.1367T>C (p.Leu456Ser)
c.1724T>C (p.Leu575Ser)
c.1544T>C (p.Leu515Ser)
c.1529T>C (p.Leu510Ser)
c.1523T>C (p.Leu508Ser)
c.500T>C (p.Leu167Ser)
c.1346T>C (p.Leu449Ser)
1g.7820575T>GCA338145925PER3c.1892T>G (p.Leu631Trp)
c.1868T>G (p.Leu623Trp)
c.1871T>G (p.Leu624Trp)
c.935T>G (p.Leu312Trp)
c.1889T>G (p.Leu630Trp)
c.1367T>G (p.Leu456Trp)
c.1724T>G (p.Leu575Trp)
c.1544T>G (p.Leu515Trp)
c.1529T>G (p.Leu510Trp)
c.1523T>G (p.Leu508Trp)
c.500T>G (p.Leu167Trp)
c.1346T>G (p.Leu449Trp)
1g.7820576G>ACA415839436PER3c.1893G>A (p.Leu631=)
c.1869G>A (p.Leu623=)
c.1872G>A (p.Leu624=)
c.936G>A (p.Leu312=)
c.1890G>A (p.Leu630=)
c.1368G>A (p.Leu456=)
c.1725G>A (p.Leu575=)
c.1545G>A (p.Leu515=)
c.1530G>A (p.Leu510=)
c.1524G>A (p.Leu508=)
c.501G>A (p.Leu167=)
c.1347G>A (p.Leu449=)
1g.7820576G>CCA338145928PER3c.1893G>C (p.Leu631Phe)
c.1869G>C (p.Leu623Phe)
c.1872G>C (p.Leu624Phe)
c.936G>C (p.Leu312Phe)
c.1890G>C (p.Leu630Phe)
c.1368G>C (p.Leu456Phe)
c.1725G>C (p.Leu575Phe)
c.1545G>C (p.Leu515Phe)
c.1530G>C (p.Leu510Phe)
c.1524G>C (p.Leu508Phe)
c.501G>C (p.Leu167Phe)
c.1347G>C (p.Leu449Phe)
1g.7820576G>TCA338145929PER3c.1893G>T (p.Leu631Phe)
c.1869G>T (p.Leu623Phe)
c.1872G>T (p.Leu624Phe)
c.936G>T (p.Leu312Phe)
c.1890G>T (p.Leu630Phe)
c.1368G>T (p.Leu456Phe)
c.1725G>T (p.Leu575Phe)
c.1545G>T (p.Leu515Phe)
c.1530G>T (p.Leu510Phe)
c.1524G>T (p.Leu508Phe)
c.501G>T (p.Leu167Phe)
c.1347G>T (p.Leu449Phe)
1g.7820579delCA2643044948PER3c.1896del (p.Ser633ArgfsTer3)
c.1872del (p.Ser625ArgfsTer3)
c.1875del (p.Ser626ArgfsTer3)
c.939del (p.Ser314ArgfsTer3)
c.1893del (p.Ser632ArgfsTer3)
c.1371del (p.Ser458ArgfsTer3)
c.1728del (p.Ser577ArgfsTer3)
c.1548del (p.Ser517ArgfsTer3)
c.1533del (p.Ser512ArgfsTer3)
c.1527del (p.Ser510ArgfsTer3)
c.504del (p.Ser169ArgfsTer3)
c.1350del (p.Ser451ArgfsTer3)
 gnomAD v4
1g.7820577G>ACA338145932PER3c.1894G>A (p.Gly632Arg)
c.1870G>A (p.Gly624Arg)
c.1873G>A (p.Gly625Arg)
c.937G>A (p.Gly313Arg)
c.1891G>A (p.Gly631Arg)
c.1369G>A (p.Gly457Arg)
c.1726G>A (p.Gly576Arg)
c.1546G>A (p.Gly516Arg)
c.1531G>A (p.Gly511Arg)
c.1525G>A (p.Gly509Arg)
c.502G>A (p.Gly168Arg)
c.1348G>A (p.Gly450Arg)
 dbSNP gnomAD v4
1g.7820577G>CCA338145934PER3c.1894G>C (p.Gly632Arg)
c.1870G>C (p.Gly624Arg)
c.1873G>C (p.Gly625Arg)
c.937G>C (p.Gly313Arg)
c.1891G>C (p.Gly631Arg)
c.1369G>C (p.Gly457Arg)
c.1726G>C (p.Gly576Arg)
c.1546G>C (p.Gly516Arg)
c.1531G>C (p.Gly511Arg)
c.1525G>C (p.Gly509Arg)
c.502G>C (p.Gly168Arg)
c.1348G>C (p.Gly450Arg)
 gnomAD v4
1g.7820577G=CA1152100285PER3c.1894G= (p.Gly632=)
c.1870G= (p.Gly624=)
c.1873G= (p.Gly625=)
c.937G= (p.Gly313=)
c.1891G= (p.Gly631=)
c.1369G= (p.Gly457=)
c.1726G= (p.Gly576=)
c.1546G= (p.Gly516=)
c.1531G= (p.Gly511=)
c.1525G= (p.Gly509=)
c.502G= (p.Gly168=)
c.1348G= (p.Gly450=)
1g.7820577G>TCA338145936PER3c.1894G>T (p.Gly632Trp)
c.1870G>T (p.Gly624Trp)
c.1873G>T (p.Gly625Trp)
c.937G>T (p.Gly313Trp)
c.1891G>T (p.Gly631Trp)
c.1369G>T (p.Gly457Trp)
c.1726G>T (p.Gly576Trp)
c.1546G>T (p.Gly516Trp)
c.1531G>T (p.Gly511Trp)
c.1525G>T (p.Gly509Trp)
c.502G>T (p.Gly168Trp)
c.1348G>T (p.Gly450Trp)
1g.7820578G>ACA338145940PER3c.1895G>A (p.Gly632Glu)
c.1871G>A (p.Gly624Glu)
c.1874G>A (p.Gly625Glu)
c.938G>A (p.Gly313Glu)
c.1892G>A (p.Gly631Glu)
c.1370G>A (p.Gly457Glu)
c.1727G>A (p.Gly576Glu)
c.1547G>A (p.Gly516Glu)
c.1532G>A (p.Gly511Glu)
c.1526G>A (p.Gly509Glu)
c.503G>A (p.Gly168Glu)
c.1349G>A (p.Gly450Glu)
 dbSNP
1g.7820578G>CCA338145942PER3c.1895G>C (p.Gly632Ala)
c.1871G>C (p.Gly624Ala)
c.1874G>C (p.Gly625Ala)
c.938G>C (p.Gly313Ala)
c.1892G>C (p.Gly631Ala)
c.1370G>C (p.Gly457Ala)
c.1727G>C (p.Gly576Ala)
c.1547G>C (p.Gly516Ala)
c.1532G>C (p.Gly511Ala)
c.1526G>C (p.Gly509Ala)
c.503G>C (p.Gly168Ala)
c.1349G>C (p.Gly450Ala)
1g.7820578G=CA1152100309PER3c.1895G= (p.Gly632=)
c.1871G= (p.Gly624=)
c.1874G= (p.Gly625=)
c.938G= (p.Gly313=)
c.1892G= (p.Gly631=)
c.1370G= (p.Gly457=)
c.1727G= (p.Gly576=)
c.1547G= (p.Gly516=)
c.1532G= (p.Gly511=)
c.1526G= (p.Gly509=)
c.503G= (p.Gly168=)
c.1349G= (p.Gly450=)
1g.7820578G>TCA338145939PER3c.1895G>T (p.Gly632Val)
c.1871G>T (p.Gly624Val)
c.1874G>T (p.Gly625Val)
c.938G>T (p.Gly313Val)
c.1892G>T (p.Gly631Val)
c.1370G>T (p.Gly457Val)
c.1727G>T (p.Gly576Val)
c.1547G>T (p.Gly516Val)
c.1532G>T (p.Gly511Val)
c.1526G>T (p.Gly509Val)
c.503G>T (p.Gly168Val)
c.1349G>T (p.Gly450Val)
 gnomAD v4
1g.7820579G>ACA415839438PER3c.1896G>A (p.Gly632=)
c.1872G>A (p.Gly624=)
c.1875G>A (p.Gly625=)
c.939G>A (p.Gly313=)
c.1893G>A (p.Gly631=)
c.1371G>A (p.Gly457=)
c.1728G>A (p.Gly576=)
c.1548G>A (p.Gly516=)
c.1533G>A (p.Gly511=)
c.1527G>A (p.Gly509=)
c.504G>A (p.Gly168=)
c.1350G>A (p.Gly450=)
 gnomAD v4
1g.7820579G>CCA415839439PER3c.1896G>C (p.Gly632=)
c.1872G>C (p.Gly624=)
c.1875G>C (p.Gly625=)
c.939G>C (p.Gly313=)
c.1893G>C (p.Gly631=)
c.1371G>C (p.Gly457=)
c.1728G>C (p.Gly576=)
c.1548G>C (p.Gly516=)
c.1533G>C (p.Gly511=)
c.1527G>C (p.Gly509=)
c.504G>C (p.Gly168=)
c.1350G>C (p.Gly450=)
1g.7820579G>TCA415839440PER3c.1896G>T (p.Gly632=)
c.1872G>T (p.Gly624=)
c.1875G>T (p.Gly625=)
c.939G>T (p.Gly313=)
c.1893G>T (p.Gly631=)
c.1371G>T (p.Gly457=)
c.1728G>T (p.Gly576=)
c.1548G>T (p.Gly516=)
c.1533G>T (p.Gly511=)
c.1527G>T (p.Gly509=)
c.504G>T (p.Gly168=)
c.1350G>T (p.Gly450=)
1g.7820580T>ACA568239PER3c.1897T>A (p.Ser633Thr)
c.1873T>A (p.Ser625Thr)
c.1876T>A (p.Ser626Thr)
c.940T>A (p.Ser314Thr)
c.1894T>A (p.Ser632Thr)
c.1372T>A (p.Ser458Thr)
c.1729T>A (p.Ser577Thr)
c.1549T>A (p.Ser517Thr)
c.1534T>A (p.Ser512Thr)
c.1528T>A (p.Ser510Thr)
c.505T>A (p.Ser169Thr)
c.1351T>A (p.Ser451Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820580T>CCA338145948PER3c.1897T>C (p.Ser633Pro)
c.1873T>C (p.Ser625Pro)
c.1876T>C (p.Ser626Pro)
c.940T>C (p.Ser314Pro)
c.1894T>C (p.Ser632Pro)
c.1372T>C (p.Ser458Pro)
c.1729T>C (p.Ser577Pro)
c.1549T>C (p.Ser517Pro)
c.1534T>C (p.Ser512Pro)
c.1528T>C (p.Ser510Pro)
c.505T>C (p.Ser169Pro)
c.1351T>C (p.Ser451Pro)
1g.7820580T>GCA338145947PER3c.1897T>G (p.Ser633Ala)
c.1873T>G (p.Ser625Ala)
c.1876T>G (p.Ser626Ala)
c.940T>G (p.Ser314Ala)
c.1894T>G (p.Ser632Ala)
c.1372T>G (p.Ser458Ala)
c.1729T>G (p.Ser577Ala)
c.1549T>G (p.Ser517Ala)
c.1534T>G (p.Ser512Ala)
c.1528T>G (p.Ser510Ala)
c.505T>G (p.Ser169Ala)
c.1351T>G (p.Ser451Ala)
1g.7820580T=CA1152100312PER3c.1897T= (p.Ser633=)
c.1873T= (p.Ser625=)
c.1876T= (p.Ser626=)
c.940T= (p.Ser314=)
c.1894T= (p.Ser632=)
c.1372T= (p.Ser458=)
c.1729T= (p.Ser577=)
c.1549T= (p.Ser517=)
c.1534T= (p.Ser512=)
c.1528T= (p.Ser510=)
c.505T= (p.Ser169=)
c.1351T= (p.Ser451=)
1g.7820581C>ACA338145951PER3c.1898C>A (p.Ser633Ter)
c.1874C>A (p.Ser625Ter)
c.1877C>A (p.Ser626Ter)
c.941C>A (p.Ser314Ter)
c.1895C>A (p.Ser632Ter)
c.1373C>A (p.Ser458Ter)
c.1730C>A (p.Ser577Ter)
c.1550C>A (p.Ser517Ter)
c.1535C>A (p.Ser512Ter)
c.1529C>A (p.Ser510Ter)
c.506C>A (p.Ser169Ter)
c.1352C>A (p.Ser451Ter)
1g.7820581C=CA1145779554PER3c.1898C= (p.Ser633=)
c.1874C= (p.Ser625=)
c.1877C= (p.Ser626=)
c.941C= (p.Ser314=)
c.1895C= (p.Ser632=)
c.1373C= (p.Ser458=)
c.1730C= (p.Ser577=)
c.1550C= (p.Ser517=)
c.1535C= (p.Ser512=)
c.1529C= (p.Ser510=)
c.506C= (p.Ser169=)
c.1352C= (p.Ser451=)
1g.7820581C>GCA338145954PER3c.1898C>G (p.Ser633Trp)
c.1874C>G (p.Ser625Trp)
c.1877C>G (p.Ser626Trp)
c.941C>G (p.Ser314Trp)
c.1895C>G (p.Ser632Trp)
c.1373C>G (p.Ser458Trp)
c.1730C>G (p.Ser577Trp)
c.1550C>G (p.Ser517Trp)
c.1535C>G (p.Ser512Trp)
c.1529C>G (p.Ser510Trp)
c.506C>G (p.Ser169Trp)
c.1352C>G (p.Ser451Trp)
1g.7820581C>TCA17263120PER3c.1898C>T (p.Ser633Leu)
c.1874C>T (p.Ser625Leu)
c.1877C>T (p.Ser626Leu)
c.941C>T (p.Ser314Leu)
c.1895C>T (p.Ser632Leu)
c.1373C>T (p.Ser458Leu)
c.1730C>T (p.Ser577Leu)
c.1550C>T (p.Ser517Leu)
c.1535C>T (p.Ser512Leu)
c.1529C>T (p.Ser510Leu)
c.506C>T (p.Ser169Leu)
c.1352C>T (p.Ser451Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.7820582G>ACA415839444PER3c.1899G>A (p.Ser633=)
c.1875G>A (p.Ser625=)
c.1878G>A (p.Ser626=)
c.942G>A (p.Ser314=)
c.1896G>A (p.Ser632=)
c.1374G>A (p.Ser458=)
c.1731G>A (p.Ser577=)
c.1551G>A (p.Ser517=)
c.1536G>A (p.Ser512=)
c.1530G>A (p.Ser510=)
c.507G>A (p.Ser169=)
c.1353G>A (p.Ser451=)
 gnomAD v4
1g.7820582G>CCA415839445PER3c.1899G>C (p.Ser633=)
c.1875G>C (p.Ser625=)
c.1878G>C (p.Ser626=)
c.942G>C (p.Ser314=)
c.1896G>C (p.Ser632=)
c.1374G>C (p.Ser458=)
c.1731G>C (p.Ser577=)
c.1551G>C (p.Ser517=)
c.1536G>C (p.Ser512=)
c.1530G>C (p.Ser510=)
c.507G>C (p.Ser169=)
c.1353G>C (p.Ser451=)
1g.7820582G=CA1152100320PER3c.1899G= (p.Ser633=)
c.1875G= (p.Ser625=)
c.1878G= (p.Ser626=)
c.942G= (p.Ser314=)
c.1896G= (p.Ser632=)
c.1374G= (p.Ser458=)
c.1731G= (p.Ser577=)
c.1551G= (p.Ser517=)
c.1536G= (p.Ser512=)
c.1530G= (p.Ser510=)
c.507G= (p.Ser169=)
c.1353G= (p.Ser451=)
1g.7820582G>TCA17263123PER3c.1899G>T (p.Ser633=)
c.1875G>T (p.Ser625=)
c.1878G>T (p.Ser626=)
c.942G>T (p.Ser314=)
c.1896G>T (p.Ser632=)
c.1374G>T (p.Ser458=)
c.1731G>T (p.Ser577=)
c.1551G>T (p.Ser517=)
c.1536G>T (p.Ser512=)
c.1530G>T (p.Ser510=)
c.507G>T (p.Ser169=)
c.1353G>T (p.Ser451=)
 dbSNP gnomAD v2 gnomAD v4
1g.7820583G>ACA338145959PER3c.1900G>A (p.Gly634Ser)
c.1876G>A (p.Gly626Ser)
c.1879G>A (p.Gly627Ser)
c.943G>A (p.Gly315Ser)
c.1897G>A (p.Gly633Ser)
c.1375G>A (p.Gly459Ser)
c.1732G>A (p.Gly578Ser)
c.1552G>A (p.Gly518Ser)
c.1537G>A (p.Gly513Ser)
c.1531G>A (p.Gly511Ser)
c.508G>A (p.Gly170Ser)
c.1354G>A (p.Gly452Ser)
1g.7820583G>CCA338145961PER3c.1900G>C (p.Gly634Arg)
c.1876G>C (p.Gly626Arg)
c.1879G>C (p.Gly627Arg)
c.943G>C (p.Gly315Arg)
c.1897G>C (p.Gly633Arg)
c.1375G>C (p.Gly459Arg)
c.1732G>C (p.Gly578Arg)
c.1552G>C (p.Gly518Arg)
c.1537G>C (p.Gly513Arg)
c.1531G>C (p.Gly511Arg)
c.508G>C (p.Gly170Arg)
c.1354G>C (p.Gly452Arg)
1g.7820583G>TCA338145963PER3c.1900G>T (p.Gly634Cys)
c.1876G>T (p.Gly626Cys)
c.1879G>T (p.Gly627Cys)
c.943G>T (p.Gly315Cys)
c.1897G>T (p.Gly633Cys)
c.1375G>T (p.Gly459Cys)
c.1732G>T (p.Gly578Cys)
c.1552G>T (p.Gly518Cys)
c.1537G>T (p.Gly513Cys)
c.1531G>T (p.Gly511Cys)
c.508G>T (p.Gly170Cys)
c.1354G>T (p.Gly452Cys)
1g.7820584G>ACA17263128PER3c.1901G>A (p.Gly634Asp)
c.1877G>A (p.Gly626Asp)
c.1880G>A (p.Gly627Asp)
c.944G>A (p.Gly315Asp)
c.1898G>A (p.Gly633Asp)
c.1376G>A (p.Gly459Asp)
c.1733G>A (p.Gly578Asp)
c.1553G>A (p.Gly518Asp)
c.1538G>A (p.Gly513Asp)
c.1532G>A (p.Gly511Asp)
c.509G>A (p.Gly170Asp)
c.1355G>A (p.Gly452Asp)
 dbSNP COSMIC
1g.7820584G>CCA338145966PER3c.1901G>C (p.Gly634Ala)
c.1877G>C (p.Gly626Ala)
c.1880G>C (p.Gly627Ala)
c.944G>C (p.Gly315Ala)
c.1898G>C (p.Gly633Ala)
c.1376G>C (p.Gly459Ala)
c.1733G>C (p.Gly578Ala)
c.1553G>C (p.Gly518Ala)
c.1538G>C (p.Gly513Ala)
c.1532G>C (p.Gly511Ala)
c.509G>C (p.Gly170Ala)
c.1355G>C (p.Gly452Ala)
1g.7820584G=CA1152100324PER3c.1901G= (p.Gly634=)
c.1877G= (p.Gly626=)
c.1880G= (p.Gly627=)
c.944G= (p.Gly315=)
c.1898G= (p.Gly633=)
c.1376G= (p.Gly459=)
c.1733G= (p.Gly578=)
c.1553G= (p.Gly518=)
c.1538G= (p.Gly513=)
c.1532G= (p.Gly511=)
c.509G= (p.Gly170=)
c.1355G= (p.Gly452=)
1g.7820584G>TCA338145969PER3c.1901G>T (p.Gly634Val)
c.1877G>T (p.Gly626Val)
c.1880G>T (p.Gly627Val)
c.944G>T (p.Gly315Val)
c.1898G>T (p.Gly633Val)
c.1376G>T (p.Gly459Val)
c.1733G>T (p.Gly578Val)
c.1553G>T (p.Gly518Val)
c.1538G>T (p.Gly513Val)
c.1532G>T (p.Gly511Val)
c.509G>T (p.Gly170Val)
c.1355G>T (p.Gly452Val)
1g.7820585C>ACA415839449PER3c.1902C>A (p.Gly634=)
c.1878C>A (p.Gly626=)
c.1881C>A (p.Gly627=)
c.945C>A (p.Gly315=)
c.1899C>A (p.Gly633=)
c.1377C>A (p.Gly459=)
c.1734C>A (p.Gly578=)
c.1554C>A (p.Gly518=)
c.1539C>A (p.Gly513=)
c.1533C>A (p.Gly511=)
c.510C>A (p.Gly170=)
c.1356C>A (p.Gly452=)
1g.7820585C>GCA415839450PER3c.1902C>G (p.Gly634=)
c.1878C>G (p.Gly626=)
c.1881C>G (p.Gly627=)
c.945C>G (p.Gly315=)
c.1899C>G (p.Gly633=)
c.1377C>G (p.Gly459=)
c.1734C>G (p.Gly578=)
c.1554C>G (p.Gly518=)
c.1539C>G (p.Gly513=)
c.1533C>G (p.Gly511=)
c.510C>G (p.Gly170=)
c.1356C>G (p.Gly452=)
1g.7820585C>TCA415839451PER3c.1902C>T (p.Gly634=)
c.1878C>T (p.Gly626=)
c.1881C>T (p.Gly627=)
c.945C>T (p.Gly315=)
c.1899C>T (p.Gly633=)
c.1377C>T (p.Gly459=)
c.1734C>T (p.Gly578=)
c.1554C>T (p.Gly518=)
c.1539C>T (p.Gly513=)
c.1533C>T (p.Gly511=)
c.510C>T (p.Gly170=)
c.1356C>T (p.Gly452=)
1g.7820586A>CCA338145971PER3c.1903A>C (p.Ile635Leu)
c.1879A>C (p.Ile627Leu)
c.1882A>C (p.Ile628Leu)
c.946A>C (p.Ile316Leu)
c.1900A>C (p.Ile634Leu)
c.1378A>C (p.Ile460Leu)
c.1735A>C (p.Ile579Leu)
c.1555A>C (p.Ile519Leu)
c.1540A>C (p.Ile514Leu)
c.1534A>C (p.Ile512Leu)
c.511A>C (p.Ile171Leu)
c.1357A>C (p.Ile453Leu)
1g.7820586A>GCA338145973PER3c.1903A>G (p.Ile635Val)
c.1879A>G (p.Ile627Val)
c.1882A>G (p.Ile628Val)
c.946A>G (p.Ile316Val)
c.1900A>G (p.Ile634Val)
c.1378A>G (p.Ile460Val)
c.1735A>G (p.Ile579Val)
c.1555A>G (p.Ile519Val)
c.1540A>G (p.Ile514Val)
c.1534A>G (p.Ile512Val)
c.511A>G (p.Ile171Val)
c.1357A>G (p.Ile453Val)
 gnomAD v4
1g.7820586A>TCA338145975PER3c.1903A>T (p.Ile635Leu)
c.1879A>T (p.Ile627Leu)
c.1882A>T (p.Ile628Leu)
c.946A>T (p.Ile316Leu)
c.1900A>T (p.Ile634Leu)
c.1378A>T (p.Ile460Leu)
c.1735A>T (p.Ile579Leu)
c.1555A>T (p.Ile519Leu)
c.1540A>T (p.Ile514Leu)
c.1534A>T (p.Ile512Leu)
c.511A>T (p.Ile171Leu)
c.1357A>T (p.Ile453Leu)
1g.7820587T>ACA338145977PER3c.1904T>A (p.Ile635Lys)
c.1880T>A (p.Ile627Lys)
c.1883T>A (p.Ile628Lys)
c.947T>A (p.Ile316Lys)
c.1901T>A (p.Ile634Lys)
c.1379T>A (p.Ile460Lys)
c.1736T>A (p.Ile579Lys)
c.1556T>A (p.Ile519Lys)
c.1541T>A (p.Ile514Lys)
c.1535T>A (p.Ile512Lys)
c.512T>A (p.Ile171Lys)
c.1358T>A (p.Ile453Lys)
 gnomAD v4
1g.7820587T>CCA338145979PER3c.1904T>C (p.Ile635Thr)
c.1880T>C (p.Ile627Thr)
c.1883T>C (p.Ile628Thr)
c.947T>C (p.Ile316Thr)
c.1901T>C (p.Ile634Thr)
c.1379T>C (p.Ile460Thr)
c.1736T>C (p.Ile579Thr)
c.1556T>C (p.Ile519Thr)
c.1541T>C (p.Ile514Thr)
c.1535T>C (p.Ile512Thr)
c.512T>C (p.Ile171Thr)
c.1358T>C (p.Ile453Thr)
 gnomAD v4
1g.7820587T>GCA338145980PER3c.1904T>G (p.Ile635Arg)
c.1880T>G (p.Ile627Arg)
c.1883T>G (p.Ile628Arg)
c.947T>G (p.Ile316Arg)
c.1901T>G (p.Ile634Arg)
c.1379T>G (p.Ile460Arg)
c.1736T>G (p.Ile579Arg)
c.1556T>G (p.Ile519Arg)
c.1541T>G (p.Ile514Arg)
c.1535T>G (p.Ile512Arg)
c.512T>G (p.Ile171Arg)
c.1358T>G (p.Ile453Arg)
1g.7820588A>CCA415839454PER3c.1905A>C (p.Ile635=)
c.1881A>C (p.Ile627=)
c.1884A>C (p.Ile628=)
c.948A>C (p.Ile316=)
c.1902A>C (p.Ile634=)
c.1380A>C (p.Ile460=)
c.1737A>C (p.Ile579=)
c.1557A>C (p.Ile519=)
c.1542A>C (p.Ile514=)
c.1536A>C (p.Ile512=)
c.513A>C (p.Ile171=)
c.1359A>C (p.Ile453=)
1g.7820588A>GCA338145983PER3c.1905A>G (p.Ile635Met)
c.1881A>G (p.Ile627Met)
c.1884A>G (p.Ile628Met)
c.948A>G (p.Ile316Met)
c.1902A>G (p.Ile634Met)
c.1380A>G (p.Ile460Met)
c.1737A>G (p.Ile579Met)
c.1557A>G (p.Ile519Met)
c.1542A>G (p.Ile514Met)
c.1536A>G (p.Ile512Met)
c.513A>G (p.Ile171Met)
c.1359A>G (p.Ile453Met)
1g.7820588A>TCA415839455PER3c.1905A>T (p.Ile635=)
c.1881A>T (p.Ile627=)
c.1884A>T (p.Ile628=)
c.948A>T (p.Ile316=)
c.1902A>T (p.Ile634=)
c.1380A>T (p.Ile460=)
c.1737A>T (p.Ile579=)
c.1557A>T (p.Ile519=)
c.1542A>T (p.Ile514=)
c.1536A>T (p.Ile512=)
c.513A>T (p.Ile171=)
c.1359A>T (p.Ile453=)
1g.7820589A>CCA338145985PER3c.1906A>C (p.Ser636Arg)
c.1882A>C (p.Ser628Arg)
c.1885A>C (p.Ser629Arg)
c.949A>C (p.Ser317Arg)
c.1903A>C (p.Ser635Arg)
c.1381A>C (p.Ser461Arg)
c.1738A>C (p.Ser580Arg)
c.1558A>C (p.Ser520Arg)
c.1543A>C (p.Ser515Arg)
c.1537A>C (p.Ser513Arg)
c.514A>C (p.Ser172Arg)
c.1360A>C (p.Ser454Arg)
1g.7820589A>GCA338145987PER3c.1906A>G (p.Ser636Gly)
c.1882A>G (p.Ser628Gly)
c.1885A>G (p.Ser629Gly)
c.949A>G (p.Ser317Gly)
c.1903A>G (p.Ser635Gly)
c.1381A>G (p.Ser461Gly)
c.1738A>G (p.Ser580Gly)
c.1558A>G (p.Ser520Gly)
c.1543A>G (p.Ser515Gly)
c.1537A>G (p.Ser513Gly)
c.514A>G (p.Ser172Gly)
c.1360A>G (p.Ser454Gly)
1g.7820589A>TCA338145989PER3c.1906A>T (p.Ser636Cys)
c.1882A>T (p.Ser628Cys)
c.1885A>T (p.Ser629Cys)
c.949A>T (p.Ser317Cys)
c.1903A>T (p.Ser635Cys)
c.1381A>T (p.Ser461Cys)
c.1738A>T (p.Ser580Cys)
c.1558A>T (p.Ser520Cys)
c.1543A>T (p.Ser515Cys)
c.1537A>T (p.Ser513Cys)
c.514A>T (p.Ser172Cys)
c.1360A>T (p.Ser454Cys)
1g.7820590G>ACA338145991PER3c.1907G>A (p.Ser636Asn)
c.1883G>A (p.Ser628Asn)
c.1886G>A (p.Ser629Asn)
c.950G>A (p.Ser317Asn)
c.1904G>A (p.Ser635Asn)
c.1382G>A (p.Ser461Asn)
c.1739G>A (p.Ser580Asn)
c.1559G>A (p.Ser520Asn)
c.1544G>A (p.Ser515Asn)
c.1538G>A (p.Ser513Asn)
c.515G>A (p.Ser172Asn)
c.1361G>A (p.Ser454Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.7820590G>CCA338145992PER3c.1907G>C (p.Ser636Thr)
c.1883G>C (p.Ser628Thr)
c.1886G>C (p.Ser629Thr)
c.950G>C (p.Ser317Thr)
c.1904G>C (p.Ser635Thr)
c.1382G>C (p.Ser461Thr)
c.1739G>C (p.Ser580Thr)
c.1559G>C (p.Ser520Thr)
c.1544G>C (p.Ser515Thr)
c.1538G>C (p.Ser513Thr)
c.515G>C (p.Ser172Thr)
c.1361G>C (p.Ser454Thr)
1g.7820590G=CA1152100331PER3c.1907G= (p.Ser636=)
c.1883G= (p.Ser628=)
c.1886G= (p.Ser629=)
c.950G= (p.Ser317=)
c.1904G= (p.Ser635=)
c.1382G= (p.Ser461=)
c.1739G= (p.Ser580=)
c.1559G= (p.Ser520=)
c.1544G= (p.Ser515=)
c.1538G= (p.Ser513=)
c.515G= (p.Ser172=)
c.1361G= (p.Ser454=)
1g.7820590G>TCA338145994PER3c.1907G>T (p.Ser636Ile)
c.1883G>T (p.Ser628Ile)
c.1886G>T (p.Ser629Ile)
c.950G>T (p.Ser317Ile)
c.1904G>T (p.Ser635Ile)
c.1382G>T (p.Ser461Ile)
c.1739G>T (p.Ser580Ile)
c.1559G>T (p.Ser520Ile)
c.1544G>T (p.Ser515Ile)
c.1538G>T (p.Ser513Ile)
c.515G>T (p.Ser172Ile)
c.1361G>T (p.Ser454Ile)
1g.7820591C>ACA338145996PER3c.1908C>A (p.Ser636Arg)
c.1884C>A (p.Ser628Arg)
c.1887C>A (p.Ser629Arg)
c.951C>A (p.Ser317Arg)
c.1905C>A (p.Ser635Arg)
c.1383C>A (p.Ser461Arg)
c.1740C>A (p.Ser580Arg)
c.1560C>A (p.Ser520Arg)
c.1545C>A (p.Ser515Arg)
c.1539C>A (p.Ser513Arg)
c.516C>A (p.Ser172Arg)
c.1362C>A (p.Ser454Arg)
1g.7820591C>GCA338145998PER3c.1908C>G (p.Ser636Arg)
c.1884C>G (p.Ser628Arg)
c.1887C>G (p.Ser629Arg)
c.951C>G (p.Ser317Arg)
c.1905C>G (p.Ser635Arg)
c.1383C>G (p.Ser461Arg)
c.1740C>G (p.Ser580Arg)
c.1560C>G (p.Ser520Arg)
c.1545C>G (p.Ser515Arg)
c.1539C>G (p.Ser513Arg)
c.516C>G (p.Ser172Arg)
c.1362C>G (p.Ser454Arg)
1g.7820591C>TCA415839459PER3c.1908C>T (p.Ser636=)
c.1884C>T (p.Ser628=)
c.1887C>T (p.Ser629=)
c.951C>T (p.Ser317=)
c.1905C>T (p.Ser635=)
c.1383C>T (p.Ser461=)
c.1740C>T (p.Ser580=)
c.1560C>T (p.Ser520=)
c.1545C>T (p.Ser515=)
c.1539C>T (p.Ser513=)
c.516C>T (p.Ser172=)
c.1362C>T (p.Ser454=)
1g.7820592delCA2574197966PER3c.1909del (p.Gln637AsnfsTer29)
c.1885del (p.Gln629AsnfsTer29)
c.1888del (p.Gln630AsnfsTer29)
c.952del (p.Gln318AsnfsTer29)
c.1906del (p.Gln636AsnfsTer29)
c.1384del (p.Gln462AsnfsTer29)
c.1741del (p.Gln581AsnfsTer29)
c.1561del (p.Gln521AsnfsTer29)
c.1546del (p.Gln516AsnfsTer29)
c.1540del (p.Gln514AsnfsTer29)
c.517del (p.Gln173AsnfsTer29)
c.1363del (p.Gln455AsnfsTer29)
1g.7820592C>ACA338145999PER3c.1909C>A (p.Gln637Lys)
c.1885C>A (p.Gln629Lys)
c.1888C>A (p.Gln630Lys)
c.952C>A (p.Gln318Lys)
c.1906C>A (p.Gln636Lys)
c.1384C>A (p.Gln462Lys)
c.1741C>A (p.Gln581Lys)
c.1561C>A (p.Gln521Lys)
c.1546C>A (p.Gln516Lys)
c.1540C>A (p.Gln514Lys)
c.517C>A (p.Gln173Lys)
c.1363C>A (p.Gln455Lys)
1g.7820592C>GCA338146000PER3c.1909C>G (p.Gln637Glu)
c.1885C>G (p.Gln629Glu)
c.1888C>G (p.Gln630Glu)
c.952C>G (p.Gln318Glu)
c.1906C>G (p.Gln636Glu)
c.1384C>G (p.Gln462Glu)
c.1741C>G (p.Gln581Glu)
c.1561C>G (p.Gln521Glu)
c.1546C>G (p.Gln516Glu)
c.1540C>G (p.Gln514Glu)
c.517C>G (p.Gln173Glu)
c.1363C>G (p.Gln455Glu)
1g.7820592C>TCA338146001PER3c.1909C>T (p.Gln637Ter)
c.1885C>T (p.Gln629Ter)
c.1888C>T (p.Gln630Ter)
c.952C>T (p.Gln318Ter)
c.1906C>T (p.Gln636Ter)
c.1384C>T (p.Gln462Ter)
c.1741C>T (p.Gln581Ter)
c.1561C>T (p.Gln521Ter)
c.1546C>T (p.Gln516Ter)
c.1540C>T (p.Gln514Ter)
c.517C>T (p.Gln173Ter)
c.1363C>T (p.Gln455Ter)
1g.7820593A>CCA338146007PER3c.1910A>C (p.Gln637Pro)
c.1886A>C (p.Gln629Pro)
c.1889A>C (p.Gln630Pro)
c.953A>C (p.Gln318Pro)
c.1907A>C (p.Gln636Pro)
c.1385A>C (p.Gln462Pro)
c.1742A>C (p.Gln581Pro)
c.1562A>C (p.Gln521Pro)
c.1547A>C (p.Gln516Pro)
c.1541A>C (p.Gln514Pro)
c.518A>C (p.Gln173Pro)
c.1364A>C (p.Gln455Pro)
1g.7820593A>GCA338146005PER3c.1910A>G (p.Gln637Arg)
c.1886A>G (p.Gln629Arg)
c.1889A>G (p.Gln630Arg)
c.953A>G (p.Gln318Arg)
c.1907A>G (p.Gln636Arg)
c.1385A>G (p.Gln462Arg)
c.1742A>G (p.Gln581Arg)
c.1562A>G (p.Gln521Arg)
c.1547A>G (p.Gln516Arg)
c.1541A>G (p.Gln514Arg)
c.518A>G (p.Gln173Arg)
c.1364A>G (p.Gln455Arg)
1g.7820593A>TCA338146003PER3c.1910A>T (p.Gln637Leu)
c.1886A>T (p.Gln629Leu)
c.1889A>T (p.Gln630Leu)
c.953A>T (p.Gln318Leu)
c.1907A>T (p.Gln636Leu)
c.1385A>T (p.Gln462Leu)
c.1742A>T (p.Gln581Leu)
c.1562A>T (p.Gln521Leu)
c.1547A>T (p.Gln516Leu)
c.1541A>T (p.Gln514Leu)
c.518A>T (p.Gln173Leu)
c.1364A>T (p.Gln455Leu)
1g.7820594A=CA1143891456PER3c.1911A= (p.Gln637=)
c.1887A= (p.Gln629=)
c.1890A= (p.Gln630=)
c.954A= (p.Gln318=)
c.1908A= (p.Gln636=)
c.1386A= (p.Gln462=)
c.1743A= (p.Gln581=)
c.1563A= (p.Gln521=)
c.1548A= (p.Gln516=)
c.1542A= (p.Gln514=)
c.519A= (p.Gln173=)
c.1365A= (p.Gln455=)
1g.7820594A>CCA338146010PER3c.1911A>C (p.Gln637His)
c.1887A>C (p.Gln629His)
c.1890A>C (p.Gln630His)
c.954A>C (p.Gln318His)
c.1908A>C (p.Gln636His)
c.1386A>C (p.Gln462His)
c.1743A>C (p.Gln581His)
c.1563A>C (p.Gln521His)
c.1548A>C (p.Gln516His)
c.1542A>C (p.Gln514His)
c.519A>C (p.Gln173His)
c.1365A>C (p.Gln455His)
1g.7820594A>GCA568240PER3c.1911A>G (p.Gln637=)
c.1887A>G (p.Gln629=)
c.1890A>G (p.Gln630=)
c.954A>G (p.Gln318=)
c.1908A>G (p.Gln636=)
c.1386A>G (p.Gln462=)
c.1743A>G (p.Gln581=)
c.1563A>G (p.Gln521=)
c.1548A>G (p.Gln516=)
c.1542A>G (p.Gln514=)
c.519A>G (p.Gln173=)
c.1365A>G (p.Gln455=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820594A>TCA338146012PER3c.1911A>T (p.Gln637His)
c.1887A>T (p.Gln629His)
c.1890A>T (p.Gln630His)
c.954A>T (p.Gln318His)
c.1908A>T (p.Gln636His)
c.1386A>T (p.Gln462His)
c.1743A>T (p.Gln581His)
c.1563A>T (p.Gln521His)
c.1548A>T (p.Gln516His)
c.1542A>T (p.Gln514His)
c.519A>T (p.Gln173His)
c.1365A>T (p.Gln455His)
 gnomAD v4
1g.7820595T>ACA338146014PER3c.1912T>A (p.Cys638Ser)
c.1888T>A (p.Cys630Ser)
c.1891T>A (p.Cys631Ser)
c.955T>A (p.Cys319Ser)
c.1909T>A (p.Cys637Ser)
c.1387T>A (p.Cys463Ser)
c.1744T>A (p.Cys582Ser)
c.1564T>A (p.Cys522Ser)
c.1549T>A (p.Cys517Ser)
c.1543T>A (p.Cys515Ser)
c.520T>A (p.Cys174Ser)
c.1366T>A (p.Cys456Ser)
1g.7820595T>CCA568241PER3c.1912T>C (p.Cys638Arg)
c.1888T>C (p.Cys630Arg)
c.1891T>C (p.Cys631Arg)
c.955T>C (p.Cys319Arg)
c.1909T>C (p.Cys637Arg)
c.1387T>C (p.Cys463Arg)
c.1744T>C (p.Cys582Arg)
c.1564T>C (p.Cys522Arg)
c.1549T>C (p.Cys517Arg)
c.1543T>C (p.Cys515Arg)
c.520T>C (p.Cys174Arg)
c.1366T>C (p.Cys456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820595T>GCA338146017PER3c.1912T>G (p.Cys638Gly)
c.1888T>G (p.Cys630Gly)
c.1891T>G (p.Cys631Gly)
c.955T>G (p.Cys319Gly)
c.1909T>G (p.Cys637Gly)
c.1387T>G (p.Cys463Gly)
c.1744T>G (p.Cys582Gly)
c.1564T>G (p.Cys522Gly)
c.1549T>G (p.Cys517Gly)
c.1543T>G (p.Cys515Gly)
c.520T>G (p.Cys174Gly)
c.1366T>G (p.Cys456Gly)
1g.7820595T=CA1152100353PER3c.1912T= (p.Cys638=)
c.1888T= (p.Cys630=)
c.1891T= (p.Cys631=)
c.955T= (p.Cys319=)
c.1909T= (p.Cys637=)
c.1387T= (p.Cys463=)
c.1744T= (p.Cys582=)
c.1564T= (p.Cys522=)
c.1549T= (p.Cys517=)
c.1543T= (p.Cys515=)
c.520T= (p.Cys174=)
c.1366T= (p.Cys456=)
1g.7820596G>ACA338146019PER3c.1913G>A (p.Cys638Tyr)
c.1889G>A (p.Cys630Tyr)
c.1892G>A (p.Cys631Tyr)
c.956G>A (p.Cys319Tyr)
c.1910G>A (p.Cys637Tyr)
c.1388G>A (p.Cys463Tyr)
c.1745G>A (p.Cys582Tyr)
c.1565G>A (p.Cys522Tyr)
c.1550G>A (p.Cys517Tyr)
c.1544G>A (p.Cys515Tyr)
c.521G>A (p.Cys174Tyr)
c.1367G>A (p.Cys456Tyr)
 dbSNP
1g.7820596G>CCA338146021PER3c.1913G>C (p.Cys638Ser)
c.1889G>C (p.Cys630Ser)
c.1892G>C (p.Cys631Ser)
c.956G>C (p.Cys319Ser)
c.1910G>C (p.Cys637Ser)
c.1388G>C (p.Cys463Ser)
c.1745G>C (p.Cys582Ser)
c.1565G>C (p.Cys522Ser)
c.1550G>C (p.Cys517Ser)
c.1544G>C (p.Cys515Ser)
c.521G>C (p.Cys174Ser)
c.1367G>C (p.Cys456Ser)
1g.7820596G=CA1152100357PER3c.1913G= (p.Cys638=)
c.1889G= (p.Cys630=)
c.1892G= (p.Cys631=)
c.956G= (p.Cys319=)
c.1910G= (p.Cys637=)
c.1388G= (p.Cys463=)
c.1745G= (p.Cys582=)
c.1565G= (p.Cys522=)
c.1550G= (p.Cys517=)
c.1544G= (p.Cys515=)
c.521G= (p.Cys174=)
c.1367G= (p.Cys456=)
1g.7820596G>TCA338146024PER3c.1913G>T (p.Cys638Phe)
c.1889G>T (p.Cys630Phe)
c.1892G>T (p.Cys631Phe)
c.956G>T (p.Cys319Phe)
c.1910G>T (p.Cys637Phe)
c.1388G>T (p.Cys463Phe)
c.1745G>T (p.Cys582Phe)
c.1565G>T (p.Cys522Phe)
c.1550G>T (p.Cys517Phe)
c.1544G>T (p.Cys515Phe)
c.521G>T (p.Cys174Phe)
c.1367G>T (p.Cys456Phe)
1g.7820597C>ACA338146026PER3c.1914C>A (p.Cys638Ter)
c.1890C>A (p.Cys630Ter)
c.1893C>A (p.Cys631Ter)
c.957C>A (p.Cys319Ter)
c.1911C>A (p.Cys637Ter)
c.1389C>A (p.Cys463Ter)
c.1746C>A (p.Cys582Ter)
c.1566C>A (p.Cys522Ter)
c.1551C>A (p.Cys517Ter)
c.1545C>A (p.Cys515Ter)
c.522C>A (p.Cys174Ter)
c.1368C>A (p.Cys456Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.7820597C=CA1141313211PER3c.1914C= (p.Cys638=)
c.1890C= (p.Cys630=)
c.1893C= (p.Cys631=)
c.957C= (p.Cys319=)
c.1911C= (p.Cys637=)
c.1389C= (p.Cys463=)
c.1746C= (p.Cys582=)
c.1566C= (p.Cys522=)
c.1551C= (p.Cys517=)
c.1545C= (p.Cys515=)
c.522C= (p.Cys174=)
c.1368C= (p.Cys456=)
1g.7820597C>GCA338146027PER3c.1914C>G (p.Cys638Trp)
c.1890C>G (p.Cys630Trp)
c.1893C>G (p.Cys631Trp)
c.957C>G (p.Cys319Trp)
c.1911C>G (p.Cys637Trp)
c.1389C>G (p.Cys463Trp)
c.1746C>G (p.Cys582Trp)
c.1566C>G (p.Cys522Trp)
c.1551C>G (p.Cys517Trp)
c.1545C>G (p.Cys515Trp)
c.522C>G (p.Cys174Trp)
c.1368C>G (p.Cys456Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820597C>TCA568242PER3c.1914C>T (p.Cys638=)
c.1890C>T (p.Cys630=)
c.1893C>T (p.Cys631=)
c.957C>T (p.Cys319=)
c.1911C>T (p.Cys637=)
c.1389C>T (p.Cys463=)
c.1746C>T (p.Cys582=)
c.1566C>T (p.Cys522=)
c.1551C>T (p.Cys517=)
c.1545C>T (p.Cys515=)
c.522C>T (p.Cys174=)
c.1368C>T (p.Cys456=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7820598G>ACA568243PER3c.1915G>A (p.Gly639Ser)
c.1891G>A (p.Gly631Ser)
c.1894G>A (p.Gly632Ser)
c.958G>A (p.Gly320Ser)
c.1912G>A (p.Gly638Ser)
c.1390G>A (p.Gly464Ser)
c.1747G>A (p.Gly583Ser)
c.1567G>A (p.Gly523Ser)
c.1552G>A (p.Gly518Ser)
c.1546G>A (p.Gly516Ser)
c.523G>A (p.Gly175Ser)
c.1369G>A (p.Gly457Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820598G>CCA338146030PER3c.1915G>C (p.Gly639Arg)
c.1891G>C (p.Gly631Arg)
c.1894G>C (p.Gly632Arg)
c.958G>C (p.Gly320Arg)
c.1912G>C (p.Gly638Arg)
c.1390G>C (p.Gly464Arg)
c.1747G>C (p.Gly583Arg)
c.1567G>C (p.Gly523Arg)
c.1552G>C (p.Gly518Arg)
c.1546G>C (p.Gly516Arg)
c.523G>C (p.Gly175Arg)
c.1369G>C (p.Gly457Arg)
 dbSNP
1g.7820598G=CA1152100362PER3c.1915G= (p.Gly639=)
c.1891G= (p.Gly631=)
c.1894G= (p.Gly632=)
c.958G= (p.Gly320=)
c.1912G= (p.Gly638=)
c.1390G= (p.Gly464=)
c.1747G= (p.Gly583=)
c.1567G= (p.Gly523=)
c.1552G= (p.Gly518=)
c.1546G= (p.Gly516=)
c.523G= (p.Gly175=)
c.1369G= (p.Gly457=)
1g.7820598G>TCA338146032PER3c.1915G>T (p.Gly639Cys)
c.1891G>T (p.Gly631Cys)
c.1894G>T (p.Gly632Cys)
c.958G>T (p.Gly320Cys)
c.1912G>T (p.Gly638Cys)
c.1390G>T (p.Gly464Cys)
c.1747G>T (p.Gly583Cys)
c.1567G>T (p.Gly523Cys)
c.1552G>T (p.Gly518Cys)
c.1546G>T (p.Gly516Cys)
c.523G>T (p.Gly175Cys)
c.1369G>T (p.Gly457Cys)
1g.7820599G>ACA338146036PER3c.1916G>A (p.Gly639Asp)
c.1892G>A (p.Gly631Asp)
c.1895G>A (p.Gly632Asp)
c.959G>A (p.Gly320Asp)
c.1913G>A (p.Gly638Asp)
c.1391G>A (p.Gly464Asp)
c.1748G>A (p.Gly583Asp)
c.1568G>A (p.Gly523Asp)
c.1553G>A (p.Gly518Asp)
c.1547G>A (p.Gly516Asp)
c.524G>A (p.Gly175Asp)
c.1370G>A (p.Gly457Asp)
 COSMIC
1g.7820599G>CCA338146038PER3c.1916G>C (p.Gly639Ala)
c.1892G>C (p.Gly631Ala)
c.1895G>C (p.Gly632Ala)
c.959G>C (p.Gly320Ala)
c.1913G>C (p.Gly638Ala)
c.1391G>C (p.Gly464Ala)
c.1748G>C (p.Gly583Ala)
c.1568G>C (p.Gly523Ala)
c.1553G>C (p.Gly518Ala)
c.1547G>C (p.Gly516Ala)
c.524G>C (p.Gly175Ala)
c.1370G>C (p.Gly457Ala)
1g.7820599G=CA1152100369PER3c.1916G= (p.Gly639=)
c.1892G= (p.Gly631=)
c.1895G= (p.Gly632=)
c.959G= (p.Gly320=)
c.1913G= (p.Gly638=)
c.1391G= (p.Gly464=)
c.1748G= (p.Gly583=)
c.1568G= (p.Gly523=)
c.1553G= (p.Gly518=)
c.1547G= (p.Gly516=)
c.524G= (p.Gly175=)
c.1370G= (p.Gly457=)
1g.7820599G>TCA338146040PER3c.1916G>T (p.Gly639Val)
c.1892G>T (p.Gly631Val)
c.1895G>T (p.Gly632Val)
c.959G>T (p.Gly320Val)
c.1913G>T (p.Gly638Val)
c.1391G>T (p.Gly464Val)
c.1748G>T (p.Gly583Val)
c.1568G>T (p.Gly523Val)
c.1553G>T (p.Gly518Val)
c.1547G>T (p.Gly516Val)
c.524G>T (p.Gly175Val)
c.1370G>T (p.Gly457Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820600T>ACA415839463PER3c.1917T>A (p.Gly639=)
c.1893T>A (p.Gly631=)
c.1896T>A (p.Gly632=)
c.960T>A (p.Gly320=)
c.1914T>A (p.Gly638=)
c.1392T>A (p.Gly464=)
c.1749T>A (p.Gly583=)
c.1569T>A (p.Gly523=)
c.1554T>A (p.Gly518=)
c.1548T>A (p.Gly516=)
c.525T>A (p.Gly175=)
c.1371T>A (p.Gly457=)
1g.7820600T>CCA415839464PER3c.1917T>C (p.Gly639=)
c.1893T>C (p.Gly631=)
c.1896T>C (p.Gly632=)
c.960T>C (p.Gly320=)
c.1914T>C (p.Gly638=)
c.1392T>C (p.Gly464=)
c.1749T>C (p.Gly583=)
c.1569T>C (p.Gly523=)
c.1554T>C (p.Gly518=)
c.1548T>C (p.Gly516=)
c.525T>C (p.Gly175=)
c.1371T>C (p.Gly457=)
1g.7820600T>GCA415839465PER3c.1917T>G (p.Gly639=)
c.1893T>G (p.Gly631=)
c.1896T>G (p.Gly632=)
c.960T>G (p.Gly320=)
c.1914T>G (p.Gly638=)
c.1392T>G (p.Gly464=)
c.1749T>G (p.Gly583=)
c.1569T>G (p.Gly523=)
c.1554T>G (p.Gly518=)
c.1548T>G (p.Gly516=)
c.525T>G (p.Gly175=)
c.1371T>G (p.Gly457=)
1g.7820601T>ACA338146043PER3c.1918T>A (p.Tyr640Asn)
c.1894T>A (p.Tyr632Asn)
c.1897T>A (p.Tyr633Asn)
c.961T>A (p.Tyr321Asn)
c.1915T>A (p.Tyr639Asn)
c.1393T>A (p.Tyr465Asn)
c.1750T>A (p.Tyr584Asn)
c.1570T>A (p.Tyr524Asn)
c.1555T>A (p.Tyr519Asn)
c.1549T>A (p.Tyr517Asn)
c.526T>A (p.Tyr176Asn)
c.1372T>A (p.Tyr458Asn)
1g.7820601T>CCA338146045PER3c.1918T>C (p.Tyr640His)
c.1894T>C (p.Tyr632His)
c.1897T>C (p.Tyr633His)
c.961T>C (p.Tyr321His)
c.1915T>C (p.Tyr639His)
c.1393T>C (p.Tyr465His)
c.1750T>C (p.Tyr584His)
c.1570T>C (p.Tyr524His)
c.1555T>C (p.Tyr519His)
c.1549T>C (p.Tyr517His)
c.526T>C (p.Tyr176His)
c.1372T>C (p.Tyr458His)
 gnomAD v4
1g.7820601T>GCA338146046PER3c.1918T>G (p.Tyr640Asp)
c.1894T>G (p.Tyr632Asp)
c.1897T>G (p.Tyr633Asp)
c.961T>G (p.Tyr321Asp)
c.1915T>G (p.Tyr639Asp)
c.1393T>G (p.Tyr465Asp)
c.1750T>G (p.Tyr584Asp)
c.1570T>G (p.Tyr524Asp)
c.1555T>G (p.Tyr519Asp)
c.1549T>G (p.Tyr517Asp)
c.526T>G (p.Tyr176Asp)
c.1372T>G (p.Tyr458Asp)
1g.7820602A>CCA338146049PER3c.1919A>C (p.Tyr640Ser)
c.1895A>C (p.Tyr632Ser)
c.1898A>C (p.Tyr633Ser)
c.962A>C (p.Tyr321Ser)
c.1916A>C (p.Tyr639Ser)
c.1394A>C (p.Tyr465Ser)
c.1751A>C (p.Tyr584Ser)
c.1571A>C (p.Tyr524Ser)
c.1556A>C (p.Tyr519Ser)
c.1550A>C (p.Tyr517Ser)
c.527A>C (p.Tyr176Ser)
c.1373A>C (p.Tyr458Ser)
1g.7820602A>GCA338146051PER3c.1919A>G (p.Tyr640Cys)
c.1895A>G (p.Tyr632Cys)
c.1898A>G (p.Tyr633Cys)
c.962A>G (p.Tyr321Cys)
c.1916A>G (p.Tyr639Cys)
c.1394A>G (p.Tyr465Cys)
c.1751A>G (p.Tyr584Cys)
c.1571A>G (p.Tyr524Cys)
c.1556A>G (p.Tyr519Cys)
c.1550A>G (p.Tyr517Cys)
c.527A>G (p.Tyr176Cys)
c.1373A>G (p.Tyr458Cys)
1g.7820602A>TCA338146052PER3c.1919A>T (p.Tyr640Phe)
c.1895A>T (p.Tyr632Phe)
c.1898A>T (p.Tyr633Phe)
c.962A>T (p.Tyr321Phe)
c.1916A>T (p.Tyr639Phe)
c.1394A>T (p.Tyr465Phe)
c.1751A>T (p.Tyr584Phe)
c.1571A>T (p.Tyr524Phe)
c.1556A>T (p.Tyr519Phe)
c.1550A>T (p.Tyr517Phe)
c.527A>T (p.Tyr176Phe)
c.1373A>T (p.Tyr458Phe)
1g.7820603delCA2643044949PER3c.1920del (p.Tyr640Ter)
c.1896del (p.Tyr632Ter)
c.1899del (p.Tyr633Ter)
c.963del (p.Tyr321Ter)
c.1917del (p.Tyr639Ter)
c.1395del (p.Tyr465Ter)
c.1752del (p.Tyr584Ter)
c.1572del (p.Tyr524Ter)
c.1557del (p.Tyr519Ter)
c.1551del (p.Tyr517Ter)
c.528del (p.Tyr176Ter)
c.1374del (p.Tyr458Ter)
 gnomAD v4
1g.7820603C>ACA338146055PER3c.1920C>A (p.Tyr640Ter)
c.1896C>A (p.Tyr632Ter)
c.1899C>A (p.Tyr633Ter)
c.963C>A (p.Tyr321Ter)
c.1917C>A (p.Tyr639Ter)
c.1395C>A (p.Tyr465Ter)
c.1752C>A (p.Tyr584Ter)
c.1572C>A (p.Tyr524Ter)
c.1557C>A (p.Tyr519Ter)
c.1551C>A (p.Tyr517Ter)
c.528C>A (p.Tyr176Ter)
c.1374C>A (p.Tyr458Ter)
1g.7820603C=CA1152100373PER3c.1920C= (p.Tyr640=)
c.1896C= (p.Tyr632=)
c.1899C= (p.Tyr633=)
c.963C= (p.Tyr321=)
c.1917C= (p.Tyr639=)
c.1395C= (p.Tyr465=)
c.1752C= (p.Tyr584=)
c.1572C= (p.Tyr524=)
c.1557C= (p.Tyr519=)
c.1551C= (p.Tyr517=)
c.528C= (p.Tyr176=)
c.1374C= (p.Tyr458=)
1g.7820603C>GCA338146057PER3c.1920C>G (p.Tyr640Ter)
c.1896C>G (p.Tyr632Ter)
c.1899C>G (p.Tyr633Ter)
c.963C>G (p.Tyr321Ter)
c.1917C>G (p.Tyr639Ter)
c.1395C>G (p.Tyr465Ter)
c.1752C>G (p.Tyr584Ter)
c.1572C>G (p.Tyr524Ter)
c.1557C>G (p.Tyr519Ter)
c.1551C>G (p.Tyr517Ter)
c.528C>G (p.Tyr176Ter)
c.1374C>G (p.Tyr458Ter)
 gnomAD v4
1g.7820603C>TCA415839469PER3c.1920C>T (p.Tyr640=)
c.1896C>T (p.Tyr632=)
c.1899C>T (p.Tyr633=)
c.963C>T (p.Tyr321=)
c.1917C>T (p.Tyr639=)
c.1395C>T (p.Tyr465=)
c.1752C>T (p.Tyr584=)
c.1572C>T (p.Tyr524=)
c.1557C>T (p.Tyr519=)
c.1551C>T (p.Tyr517=)
c.528C>T (p.Tyr176=)
c.1374C>T (p.Tyr458=)
 dbSNP gnomAD v3 gnomAD v4
1g.7820604A>CCA338146063PER3c.1921A>C (p.Ser641Arg)
c.1897A>C (p.Ser633Arg)
c.1900A>C (p.Ser634Arg)
c.964A>C (p.Ser322Arg)
c.1918A>C (p.Ser640Arg)
c.1396A>C (p.Ser466Arg)
c.1753A>C (p.Ser585Arg)
c.1573A>C (p.Ser525Arg)
c.1558A>C (p.Ser520Arg)
c.1552A>C (p.Ser518Arg)
c.529A>C (p.Ser177Arg)
c.1375A>C (p.Ser459Arg)
1g.7820604A>GCA338146062PER3c.1921A>G (p.Ser641Gly)
c.1897A>G (p.Ser633Gly)
c.1900A>G (p.Ser634Gly)
c.964A>G (p.Ser322Gly)
c.1918A>G (p.Ser640Gly)
c.1396A>G (p.Ser466Gly)
c.1753A>G (p.Ser585Gly)
c.1573A>G (p.Ser525Gly)
c.1558A>G (p.Ser520Gly)
c.1552A>G (p.Ser518Gly)
c.529A>G (p.Ser177Gly)
c.1375A>G (p.Ser459Gly)
1g.7820604A>TCA338146060PER3c.1921A>T (p.Ser641Cys)
c.1897A>T (p.Ser633Cys)
c.1900A>T (p.Ser634Cys)
c.964A>T (p.Ser322Cys)
c.1918A>T (p.Ser640Cys)
c.1396A>T (p.Ser466Cys)
c.1753A>T (p.Ser585Cys)
c.1573A>T (p.Ser525Cys)
c.1558A>T (p.Ser520Cys)
c.1552A>T (p.Ser518Cys)
c.529A>T (p.Ser177Cys)
c.1375A>T (p.Ser459Cys)
1g.7820605G>ACA338146066PER3c.1922G>A (p.Ser641Asn)
c.1898G>A (p.Ser633Asn)
c.1901G>A (p.Ser634Asn)
c.965G>A (p.Ser322Asn)
c.1919G>A (p.Ser640Asn)
c.1397G>A (p.Ser466Asn)
c.1754G>A (p.Ser585Asn)
c.1574G>A (p.Ser525Asn)
c.1559G>A (p.Ser520Asn)
c.1553G>A (p.Ser518Asn)
c.530G>A (p.Ser177Asn)
c.1376G>A (p.Ser459Asn)
1g.7820605G>CCA338146067PER3c.1922G>C (p.Ser641Thr)
c.1898G>C (p.Ser633Thr)
c.1901G>C (p.Ser634Thr)
c.965G>C (p.Ser322Thr)
c.1919G>C (p.Ser640Thr)
c.1397G>C (p.Ser466Thr)
c.1754G>C (p.Ser585Thr)
c.1574G>C (p.Ser525Thr)
c.1559G>C (p.Ser520Thr)
c.1553G>C (p.Ser518Thr)
c.530G>C (p.Ser177Thr)
c.1376G>C (p.Ser459Thr)
1g.7820605G>TCA338146069PER3c.1922G>T (p.Ser641Ile)
c.1898G>T (p.Ser633Ile)
c.1901G>T (p.Ser634Ile)
c.965G>T (p.Ser322Ile)
c.1919G>T (p.Ser640Ile)
c.1397G>T (p.Ser466Ile)
c.1754G>T (p.Ser585Ile)
c.1574G>T (p.Ser525Ile)
c.1559G>T (p.Ser520Ile)
c.1553G>T (p.Ser518Ile)
c.530G>T (p.Ser177Ile)
c.1376G>T (p.Ser459Ile)
1g.7820606C>ACA338146072PER3c.1923C>A (p.Ser641Arg)
c.1899C>A (p.Ser633Arg)
c.1902C>A (p.Ser634Arg)
c.966C>A (p.Ser322Arg)
c.1920C>A (p.Ser640Arg)
c.1398C>A (p.Ser466Arg)
c.1755C>A (p.Ser585Arg)
c.1575C>A (p.Ser525Arg)
c.1560C>A (p.Ser520Arg)
c.1554C>A (p.Ser518Arg)
c.531C>A (p.Ser177Arg)
c.1377C>A (p.Ser459Arg)
1g.7820606C=CA1143458191PER3c.1923C= (p.Ser641=)
c.1899C= (p.Ser633=)
c.1902C= (p.Ser634=)
c.966C= (p.Ser322=)
c.1920C= (p.Ser640=)
c.1398C= (p.Ser466=)
c.1755C= (p.Ser585=)
c.1575C= (p.Ser525=)
c.1560C= (p.Ser520=)
c.1554C= (p.Ser518=)
c.531C= (p.Ser177=)
c.1377C= (p.Ser459=)
1g.7820606C>GCA568245PER3c.1923C>G (p.Ser641Arg)
c.1899C>G (p.Ser633Arg)
c.1902C>G (p.Ser634Arg)
c.966C>G (p.Ser322Arg)
c.1920C>G (p.Ser640Arg)
c.1398C>G (p.Ser466Arg)
c.1755C>G (p.Ser585Arg)
c.1575C>G (p.Ser525Arg)
c.1560C>G (p.Ser520Arg)
c.1554C>G (p.Ser518Arg)
c.531C>G (p.Ser177Arg)
c.1377C>G (p.Ser459Arg)
 dbSNP ExAC gnomAD v2
1g.7820606C>TCA568244PER3c.1923C>T (p.Ser641=)
c.1899C>T (p.Ser633=)
c.1902C>T (p.Ser634=)
c.966C>T (p.Ser322=)
c.1920C>T (p.Ser640=)
c.1398C>T (p.Ser466=)
c.1755C>T (p.Ser585=)
c.1575C>T (p.Ser525=)
c.1560C>T (p.Ser520=)
c.1554C>T (p.Ser518=)
c.531C>T (p.Ser177=)
c.1377C>T (p.Ser459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820607A>CCA338146081PER3c.1924A>C (p.Ser642Arg)
c.1900A>C (p.Ser634Arg)
c.1903A>C (p.Ser635Arg)
c.967A>C (p.Ser323Arg)
c.1921A>C (p.Ser641Arg)
c.1399A>C (p.Ser467Arg)
c.1756A>C (p.Ser586Arg)
c.1576A>C (p.Ser526Arg)
c.1561A>C (p.Ser521Arg)
c.1555A>C (p.Ser519Arg)
c.532A>C (p.Ser178Arg)
c.1378A>C (p.Ser460Arg)
1g.7820607A>GCA338146077PER3c.1924A>G (p.Ser642Gly)
c.1900A>G (p.Ser634Gly)
c.1903A>G (p.Ser635Gly)
c.967A>G (p.Ser323Gly)
c.1921A>G (p.Ser641Gly)
c.1399A>G (p.Ser467Gly)
c.1756A>G (p.Ser586Gly)
c.1576A>G (p.Ser526Gly)
c.1561A>G (p.Ser521Gly)
c.1555A>G (p.Ser519Gly)
c.532A>G (p.Ser178Gly)
c.1378A>G (p.Ser460Gly)
1g.7820607A>TCA338146079PER3c.1924A>T (p.Ser642Cys)
c.1900A>T (p.Ser634Cys)
c.1903A>T (p.Ser635Cys)
c.967A>T (p.Ser323Cys)
c.1921A>T (p.Ser641Cys)
c.1399A>T (p.Ser467Cys)
c.1756A>T (p.Ser586Cys)
c.1576A>T (p.Ser526Cys)
c.1561A>T (p.Ser521Cys)
c.1555A>T (p.Ser519Cys)
c.532A>T (p.Ser178Cys)
c.1378A>T (p.Ser460Cys)
1g.7820608G>ACA338146084PER3c.1925G>A (p.Ser642Asn)
c.1901G>A (p.Ser634Asn)
c.1904G>A (p.Ser635Asn)
c.968G>A (p.Ser323Asn)
c.1922G>A (p.Ser641Asn)
c.1400G>A (p.Ser467Asn)
c.1757G>A (p.Ser586Asn)
c.1577G>A (p.Ser526Asn)
c.1562G>A (p.Ser521Asn)
c.1556G>A (p.Ser519Asn)
c.533G>A (p.Ser178Asn)
c.1379G>A (p.Ser460Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7820608G>CCA338146086PER3c.1925G>C (p.Ser642Thr)
c.1901G>C (p.Ser634Thr)
c.1904G>C (p.Ser635Thr)
c.968G>C (p.Ser323Thr)
c.1922G>C (p.Ser641Thr)
c.1400G>C (p.Ser467Thr)
c.1757G>C (p.Ser586Thr)
c.1577G>C (p.Ser526Thr)
c.1562G>C (p.Ser521Thr)
c.1556G>C (p.Ser519Thr)
c.533G>C (p.Ser178Thr)
c.1379G>C (p.Ser460Thr)
1g.7820608G=CA1152100377PER3c.1925G= (p.Ser642=)
c.1901G= (p.Ser634=)
c.1904G= (p.Ser635=)
c.968G= (p.Ser323=)
c.1922G= (p.Ser641=)
c.1400G= (p.Ser467=)
c.1757G= (p.Ser586=)
c.1577G= (p.Ser526=)
c.1562G= (p.Ser521=)
c.1556G= (p.Ser519=)
c.533G= (p.Ser178=)
c.1379G= (p.Ser460=)
1g.7820608G>TCA338146088PER3c.1925G>T (p.Ser642Ile)
c.1901G>T (p.Ser634Ile)
c.1904G>T (p.Ser635Ile)
c.968G>T (p.Ser323Ile)
c.1922G>T (p.Ser641Ile)
c.1400G>T (p.Ser467Ile)
c.1757G>T (p.Ser586Ile)
c.1577G>T (p.Ser526Ile)
c.1562G>T (p.Ser521Ile)
c.1556G>T (p.Ser519Ile)
c.533G>T (p.Ser178Ile)
c.1379G>T (p.Ser460Ile)
1g.7820609C>ACA338146090PER3c.1926C>A (p.Ser642Arg)
c.1902C>A (p.Ser634Arg)
c.1905C>A (p.Ser635Arg)
c.969C>A (p.Ser323Arg)
c.1923C>A (p.Ser641Arg)
c.1401C>A (p.Ser467Arg)
c.1758C>A (p.Ser586Arg)
c.1578C>A (p.Ser526Arg)
c.1563C>A (p.Ser521Arg)
c.1557C>A (p.Ser519Arg)
c.534C>A (p.Ser178Arg)
c.1380C>A (p.Ser460Arg)
1g.7820609C>GCA338146092PER3c.1926C>G (p.Ser642Arg)
c.1902C>G (p.Ser634Arg)
c.1905C>G (p.Ser635Arg)
c.969C>G (p.Ser323Arg)
c.1923C>G (p.Ser641Arg)
c.1401C>G (p.Ser467Arg)
c.1758C>G (p.Ser586Arg)
c.1578C>G (p.Ser526Arg)
c.1563C>G (p.Ser521Arg)
c.1557C>G (p.Ser519Arg)
c.534C>G (p.Ser178Arg)
c.1380C>G (p.Ser460Arg)
1g.7820609C>TCA415839473PER3c.1926C>T (p.Ser642=)
c.1902C>T (p.Ser634=)
c.1905C>T (p.Ser635=)
c.969C>T (p.Ser323=)
c.1923C>T (p.Ser641=)
c.1401C>T (p.Ser467=)
c.1758C>T (p.Ser586=)
c.1578C>T (p.Ser526=)
c.1563C>T (p.Ser521=)
c.1557C>T (p.Ser519=)
c.534C>T (p.Ser178=)
c.1380C>T (p.Ser460=)
1g.7820610A>CCA338146099PER3c.1927A>C (p.Thr643Pro)
c.1903A>C (p.Thr635Pro)
c.1906A>C (p.Thr636Pro)
c.970A>C (p.Thr324Pro)
c.1924A>C (p.Thr642Pro)
c.1402A>C (p.Thr468Pro)
c.1759A>C (p.Thr587Pro)
c.1579A>C (p.Thr527Pro)
c.1564A>C (p.Thr522Pro)
c.1558A>C (p.Thr520Pro)
c.535A>C (p.Thr179Pro)
c.1381A>C (p.Thr461Pro)
1g.7820610A>GCA338146094PER3c.1927A>G (p.Thr643Ala)
c.1903A>G (p.Thr635Ala)
c.1906A>G (p.Thr636Ala)
c.970A>G (p.Thr324Ala)
c.1924A>G (p.Thr642Ala)
c.1402A>G (p.Thr468Ala)
c.1759A>G (p.Thr587Ala)
c.1579A>G (p.Thr527Ala)
c.1564A>G (p.Thr522Ala)
c.1558A>G (p.Thr520Ala)
c.535A>G (p.Thr179Ala)
c.1381A>G (p.Thr461Ala)
1g.7820610A>TCA338146097PER3c.1927A>T (p.Thr643Ser)
c.1903A>T (p.Thr635Ser)
c.1906A>T (p.Thr636Ser)
c.970A>T (p.Thr324Ser)
c.1924A>T (p.Thr642Ser)
c.1402A>T (p.Thr468Ser)
c.1759A>T (p.Thr587Ser)
c.1579A>T (p.Thr527Ser)
c.1564A>T (p.Thr522Ser)
c.1558A>T (p.Thr520Ser)
c.535A>T (p.Thr179Ser)
c.1381A>T (p.Thr461Ser)
1g.7820611C>ACA338146100PER3c.1928C>A (p.Thr643Asn)
c.1904C>A (p.Thr635Asn)
c.1907C>A (p.Thr636Asn)
c.971C>A (p.Thr324Asn)
c.1925C>A (p.Thr642Asn)
c.1403C>A (p.Thr468Asn)
c.1760C>A (p.Thr587Asn)
c.1580C>A (p.Thr527Asn)
c.1565C>A (p.Thr522Asn)
c.1559C>A (p.Thr520Asn)
c.536C>A (p.Thr179Asn)
c.1382C>A (p.Thr461Asn)
1g.7820611C=CA1152100380PER3c.1928C= (p.Thr643=)
c.1904C= (p.Thr635=)
c.1907C= (p.Thr636=)
c.971C= (p.Thr324=)
c.1925C= (p.Thr642=)
c.1403C= (p.Thr468=)
c.1760C= (p.Thr587=)
c.1580C= (p.Thr527=)
c.1565C= (p.Thr522=)
c.1559C= (p.Thr520=)
c.536C= (p.Thr179=)
c.1382C= (p.Thr461=)
1g.7820611C>GCA338146101PER3c.1928C>G (p.Thr643Ser)
c.1904C>G (p.Thr635Ser)
c.1907C>G (p.Thr636Ser)
c.971C>G (p.Thr324Ser)
c.1925C>G (p.Thr642Ser)
c.1403C>G (p.Thr468Ser)
c.1760C>G (p.Thr587Ser)
c.1580C>G (p.Thr527Ser)
c.1565C>G (p.Thr522Ser)
c.1559C>G (p.Thr520Ser)
c.536C>G (p.Thr179Ser)
c.1382C>G (p.Thr461Ser)
1g.7820611C>TCA338146102PER3c.1928C>T (p.Thr643Ile)
c.1904C>T (p.Thr635Ile)
c.1907C>T (p.Thr636Ile)
c.971C>T (p.Thr324Ile)
c.1925C>T (p.Thr642Ile)
c.1403C>T (p.Thr468Ile)
c.1760C>T (p.Thr587Ile)
c.1580C>T (p.Thr527Ile)
c.1565C>T (p.Thr522Ile)
c.1559C>T (p.Thr520Ile)
c.536C>T (p.Thr179Ile)
c.1382C>T (p.Thr461Ile)
 dbSNP gnomAD v4
1g.7820612C>ACA415839477PER3c.1929C>A (p.Thr643=)
c.1905C>A (p.Thr635=)
c.1908C>A (p.Thr636=)
c.972C>A (p.Thr324=)
c.1926C>A (p.Thr642=)
c.1404C>A (p.Thr468=)
c.1761C>A (p.Thr587=)
c.1581C>A (p.Thr527=)
c.1566C>A (p.Thr522=)
c.1560C>A (p.Thr520=)
c.537C>A (p.Thr179=)
c.1383C>A (p.Thr461=)
1g.7820612C>GCA415839478PER3c.1929C>G (p.Thr643=)
c.1905C>G (p.Thr635=)
c.1908C>G (p.Thr636=)
c.972C>G (p.Thr324=)
c.1926C>G (p.Thr642=)
c.1404C>G (p.Thr468=)
c.1761C>G (p.Thr587=)
c.1581C>G (p.Thr527=)
c.1566C>G (p.Thr522=)
c.1560C>G (p.Thr520=)
c.537C>G (p.Thr179=)
c.1383C>G (p.Thr461=)
1g.7820612C>TCA415839479PER3c.1929C>T (p.Thr643=)
c.1905C>T (p.Thr635=)
c.1908C>T (p.Thr636=)
c.972C>T (p.Thr324=)
c.1926C>T (p.Thr642=)
c.1404C>T (p.Thr468=)
c.1761C>T (p.Thr587=)
c.1581C>T (p.Thr527=)
c.1566C>T (p.Thr522=)
c.1560C>T (p.Thr520=)
c.537C>T (p.Thr179=)
c.1383C>T (p.Thr461=)
 gnomAD v4
1g.7820613A=CA1152100387PER3c.1930A= (p.Ile644=)
c.1906A= (p.Ile636=)
c.1909A= (p.Ile637=)
c.973A= (p.Ile325=)
c.1927A= (p.Ile643=)
c.1405A= (p.Ile469=)
c.1762A= (p.Ile588=)
c.1582A= (p.Ile528=)
c.1567A= (p.Ile523=)
c.1561A= (p.Ile521=)
c.538A= (p.Ile180=)
c.1384A= (p.Ile462=)
1g.7820613A>CCA338146103PER3c.1930A>C (p.Ile644Leu)
c.1906A>C (p.Ile636Leu)
c.1909A>C (p.Ile637Leu)
c.973A>C (p.Ile325Leu)
c.1927A>C (p.Ile643Leu)
c.1405A>C (p.Ile469Leu)
c.1762A>C (p.Ile588Leu)
c.1582A>C (p.Ile528Leu)
c.1567A>C (p.Ile523Leu)
c.1561A>C (p.Ile521Leu)
c.538A>C (p.Ile180Leu)
c.1384A>C (p.Ile462Leu)
1g.7820613A>GCA338146104PER3c.1930A>G (p.Ile644Val)
c.1906A>G (p.Ile636Val)
c.1909A>G (p.Ile637Val)
c.973A>G (p.Ile325Val)
c.1927A>G (p.Ile643Val)
c.1405A>G (p.Ile469Val)
c.1762A>G (p.Ile588Val)
c.1582A>G (p.Ile528Val)
c.1567A>G (p.Ile523Val)
c.1561A>G (p.Ile521Val)
c.538A>G (p.Ile180Val)
c.1384A>G (p.Ile462Val)
 dbSNP gnomAD v2 gnomAD v4
1g.7820613A>TCA338146105PER3c.1930A>T (p.Ile644Phe)
c.1906A>T (p.Ile636Phe)
c.1909A>T (p.Ile637Phe)
c.973A>T (p.Ile325Phe)
c.1927A>T (p.Ile643Phe)
c.1405A>T (p.Ile469Phe)
c.1762A>T (p.Ile588Phe)
c.1582A>T (p.Ile528Phe)
c.1567A>T (p.Ile523Phe)
c.1561A>T (p.Ile521Phe)
c.538A>T (p.Ile180Phe)
c.1384A>T (p.Ile462Phe)
1g.7820614T>ACA338146106PER3c.1931T>A (p.Ile644Asn)
c.1907T>A (p.Ile636Asn)
c.1910T>A (p.Ile637Asn)
c.974T>A (p.Ile325Asn)
c.1928T>A (p.Ile643Asn)
c.1406T>A (p.Ile469Asn)
c.1763T>A (p.Ile588Asn)
c.1583T>A (p.Ile528Asn)
c.1568T>A (p.Ile523Asn)
c.1562T>A (p.Ile521Asn)
c.539T>A (p.Ile180Asn)
c.1385T>A (p.Ile462Asn)
1g.7820614T>CCA338146107PER3c.1931T>C (p.Ile644Thr)
c.1907T>C (p.Ile636Thr)
c.1910T>C (p.Ile637Thr)
c.974T>C (p.Ile325Thr)
c.1928T>C (p.Ile643Thr)
c.1406T>C (p.Ile469Thr)
c.1763T>C (p.Ile588Thr)
c.1583T>C (p.Ile528Thr)
c.1568T>C (p.Ile523Thr)
c.1562T>C (p.Ile521Thr)
c.539T>C (p.Ile180Thr)
c.1385T>C (p.Ile462Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.7820614T>GCA338146108PER3c.1931T>G (p.Ile644Ser)
c.1907T>G (p.Ile636Ser)
c.1910T>G (p.Ile637Ser)
c.974T>G (p.Ile325Ser)
c.1928T>G (p.Ile643Ser)
c.1406T>G (p.Ile469Ser)
c.1763T>G (p.Ile588Ser)
c.1583T>G (p.Ile528Ser)
c.1568T>G (p.Ile523Ser)
c.1562T>G (p.Ile521Ser)
c.539T>G (p.Ile180Ser)
c.1385T>G (p.Ile462Ser)
1g.7820614T=CA1152100393PER3c.1931T= (p.Ile644=)
c.1907T= (p.Ile636=)
c.1910T= (p.Ile637=)
c.974T= (p.Ile325=)
c.1928T= (p.Ile643=)
c.1406T= (p.Ile469=)
c.1763T= (p.Ile588=)
c.1583T= (p.Ile528=)
c.1568T= (p.Ile523=)
c.1562T= (p.Ile521=)
c.539T= (p.Ile180=)
c.1385T= (p.Ile462=)
1g.7820615T>ACA415839480PER3c.1932T>A (p.Ile644=)
c.1908T>A (p.Ile636=)
c.1911T>A (p.Ile637=)
c.975T>A (p.Ile325=)
c.1929T>A (p.Ile643=)
c.1407T>A (p.Ile469=)
c.1764T>A (p.Ile588=)
c.1584T>A (p.Ile528=)
c.1569T>A (p.Ile523=)
c.1563T>A (p.Ile521=)
c.540T>A (p.Ile180=)
c.1386T>A (p.Ile462=)
1g.7820615T>CCA415839481PER3c.1932T>C (p.Ile644=)
c.1908T>C (p.Ile636=)
c.1911T>C (p.Ile637=)
c.975T>C (p.Ile325=)
c.1929T>C (p.Ile643=)
c.1407T>C (p.Ile469=)
c.1764T>C (p.Ile588=)
c.1584T>C (p.Ile528=)
c.1569T>C (p.Ile523=)
c.1563T>C (p.Ile521=)
c.540T>C (p.Ile180=)
c.1386T>C (p.Ile462=)
1g.7820615T>GCA338146109PER3c.1932T>G (p.Ile644Met)
c.1908T>G (p.Ile636Met)
c.1911T>G (p.Ile637Met)
c.975T>G (p.Ile325Met)
c.1929T>G (p.Ile643Met)
c.1407T>G (p.Ile469Met)
c.1764T>G (p.Ile588Met)
c.1584T>G (p.Ile528Met)
c.1569T>G (p.Ile523Met)
c.1563T>G (p.Ile521Met)
c.540T>G (p.Ile180Met)
c.1386T>G (p.Ile462Met)
 gnomAD v4
1g.7820616G>ACA338146110PER3c.1933G>A (p.Val645Ile)
c.1909G>A (p.Val637Ile)
c.1912G>A (p.Val638Ile)
c.976G>A (p.Val326Ile)
c.1930G>A (p.Val644Ile)
c.1408G>A (p.Val470Ile)
c.1765G>A (p.Val589Ile)
c.1585G>A (p.Val529Ile)
c.1570G>A (p.Val524Ile)
c.1564G>A (p.Val522Ile)
c.541G>A (p.Val181Ile)
c.1387G>A (p.Val463Ile)
1g.7820616G>CCA338146111PER3c.1933G>C (p.Val645Leu)
c.1909G>C (p.Val637Leu)
c.1912G>C (p.Val638Leu)
c.976G>C (p.Val326Leu)
c.1930G>C (p.Val644Leu)
c.1408G>C (p.Val470Leu)
c.1765G>C (p.Val589Leu)
c.1585G>C (p.Val529Leu)
c.1570G>C (p.Val524Leu)
c.1564G>C (p.Val522Leu)
c.541G>C (p.Val181Leu)
c.1387G>C (p.Val463Leu)
1g.7820616G=CA1152100399PER3c.1933G= (p.Val645=)
c.1909G= (p.Val637=)
c.1912G= (p.Val638=)
c.976G= (p.Val326=)
c.1930G= (p.Val644=)
c.1408G= (p.Val470=)
c.1765G= (p.Val589=)
c.1585G= (p.Val529=)
c.1570G= (p.Val524=)
c.1564G= (p.Val522=)
c.541G= (p.Val181=)
c.1387G= (p.Val463=)
1g.7820616G>TCA338146112PER3c.1933G>T (p.Val645Phe)
c.1909G>T (p.Val637Phe)
c.1912G>T (p.Val638Phe)
c.976G>T (p.Val326Phe)
c.1930G>T (p.Val644Phe)
c.1408G>T (p.Val470Phe)
c.1765G>T (p.Val589Phe)
c.1585G>T (p.Val529Phe)
c.1570G>T (p.Val524Phe)
c.1564G>T (p.Val522Phe)
c.541G>T (p.Val181Phe)
c.1387G>T (p.Val463Phe)
 dbSNP gnomAD v4
1g.7820617T>ACA338146113PER3c.1934T>A (p.Val645Asp)
c.1910T>A (p.Val637Asp)
c.1913T>A (p.Val638Asp)
c.977T>A (p.Val326Asp)
c.1931T>A (p.Val644Asp)
c.1409T>A (p.Val470Asp)
c.1766T>A (p.Val589Asp)
c.1586T>A (p.Val529Asp)
c.1571T>A (p.Val524Asp)
c.1565T>A (p.Val522Asp)
c.542T>A (p.Val181Asp)
c.1388T>A (p.Val463Asp)
1g.7820617T>CCA338146115PER3c.1934T>C (p.Val645Ala)
c.1910T>C (p.Val637Ala)
c.1913T>C (p.Val638Ala)
c.977T>C (p.Val326Ala)
c.1931T>C (p.Val644Ala)
c.1409T>C (p.Val470Ala)
c.1766T>C (p.Val589Ala)
c.1586T>C (p.Val529Ala)
c.1571T>C (p.Val524Ala)
c.1565T>C (p.Val522Ala)
c.542T>C (p.Val181Ala)
c.1388T>C (p.Val463Ala)
1g.7820617T>GCA338146114PER3c.1934T>G (p.Val645Gly)
c.1910T>G (p.Val637Gly)
c.1913T>G (p.Val638Gly)
c.977T>G (p.Val326Gly)
c.1931T>G (p.Val644Gly)
c.1409T>G (p.Val470Gly)
c.1766T>G (p.Val589Gly)
c.1586T>G (p.Val529Gly)
c.1571T>G (p.Val524Gly)
c.1565T>G (p.Val522Gly)
c.542T>G (p.Val181Gly)
c.1388T>G (p.Val463Gly)
1g.7820618C>ACA415839487PER3c.1935C>A (p.Val645=)
c.1911C>A (p.Val637=)
c.1914C>A (p.Val638=)
c.978C>A (p.Val326=)
c.1932C>A (p.Val644=)
c.1410C>A (p.Val470=)
c.1767C>A (p.Val589=)
c.1587C>A (p.Val529=)
c.1572C>A (p.Val524=)
c.1566C>A (p.Val522=)
c.543C>A (p.Val181=)
c.1389C>A (p.Val463=)
1g.7820618C=CA1152100402PER3c.1935C= (p.Val645=)
c.1911C= (p.Val637=)
c.1914C= (p.Val638=)
c.978C= (p.Val326=)
c.1932C= (p.Val644=)
c.1410C= (p.Val470=)
c.1767C= (p.Val589=)
c.1587C= (p.Val529=)
c.1572C= (p.Val524=)
c.1566C= (p.Val522=)
c.543C= (p.Val181=)
c.1389C= (p.Val463=)
1g.7820618C>GCA415839486PER3c.1935C>G (p.Val645=)
c.1911C>G (p.Val637=)
c.1914C>G (p.Val638=)
c.978C>G (p.Val326=)
c.1932C>G (p.Val644=)
c.1410C>G (p.Val470=)
c.1767C>G (p.Val589=)
c.1587C>G (p.Val529=)
c.1572C>G (p.Val524=)
c.1566C>G (p.Val522=)
c.543C>G (p.Val181=)
c.1389C>G (p.Val463=)
1g.7820618C>TCA17263133PER3c.1935C>T (p.Val645=)
c.1911C>T (p.Val637=)
c.1914C>T (p.Val638=)
c.978C>T (p.Val326=)
c.1932C>T (p.Val644=)
c.1410C>T (p.Val470=)
c.1767C>T (p.Val589=)
c.1587C>T (p.Val529=)
c.1572C>T (p.Val524=)
c.1566C>T (p.Val522=)
c.543C>T (p.Val181=)
c.1389C>T (p.Val463=)
 dbSNP gnomAD v4
1g.7820619C>ACA338146116PER3c.1936C>A (p.His646Asn)
c.1912C>A (p.His638Asn)
c.1915C>A (p.His639Asn)
c.979C>A (p.His327Asn)
c.1933C>A (p.His645Asn)
c.1411C>A (p.His471Asn)
c.1768C>A (p.His590Asn)
c.1588C>A (p.His530Asn)
c.1573C>A (p.His525Asn)
c.1567C>A (p.His523Asn)
c.544C>A (p.His182Asn)
c.1390C>A (p.His464Asn)
1g.7820619C>GCA338146117PER3c.1936C>G (p.His646Asp)
c.1912C>G (p.His638Asp)
c.1915C>G (p.His639Asp)
c.979C>G (p.His327Asp)
c.1933C>G (p.His645Asp)
c.1411C>G (p.His471Asp)
c.1768C>G (p.His590Asp)
c.1588C>G (p.His530Asp)
c.1573C>G (p.His525Asp)
c.1567C>G (p.His523Asp)
c.544C>G (p.His182Asp)
c.1390C>G (p.His464Asp)
1g.7820619C>TCA338146118PER3c.1936C>T (p.His646Tyr)
c.1912C>T (p.His638Tyr)
c.1915C>T (p.His639Tyr)
c.979C>T (p.His327Tyr)
c.1933C>T (p.His645Tyr)
c.1411C>T (p.His471Tyr)
c.1768C>T (p.His590Tyr)
c.1588C>T (p.His530Tyr)
c.1573C>T (p.His525Tyr)
c.1567C>T (p.His523Tyr)
c.544C>T (p.His182Tyr)
c.1390C>T (p.His464Tyr)
1g.7820620A=CA1144063355PER3c.1937A= (p.His646=)
c.1913A= (p.His638=)
c.1916A= (p.His639=)
c.980A= (p.His327=)
c.1934A= (p.His645=)
c.1412A= (p.His471=)
c.1769A= (p.His590=)
c.1589A= (p.His530=)
c.1574A= (p.His525=)
c.1568A= (p.His523=)
c.545A= (p.His182=)
c.1391A= (p.His464=)
1g.7820620A>CCA338146119PER3c.1937A>C (p.His646Pro)
c.1913A>C (p.His638Pro)
c.1916A>C (p.His639Pro)
c.980A>C (p.His327Pro)
c.1934A>C (p.His645Pro)
c.1412A>C (p.His471Pro)
c.1769A>C (p.His590Pro)
c.1589A>C (p.His530Pro)
c.1574A>C (p.His525Pro)
c.1568A>C (p.His523Pro)
c.545A>C (p.His182Pro)
c.1391A>C (p.His464Pro)
1g.7820620A>GCA568246PER3c.1937A>G (p.His646Arg)
c.1913A>G (p.His638Arg)
c.1916A>G (p.His639Arg)
c.980A>G (p.His327Arg)
c.1934A>G (p.His645Arg)
c.1412A>G (p.His471Arg)
c.1769A>G (p.His590Arg)
c.1589A>G (p.His530Arg)
c.1574A>G (p.His525Arg)
c.1568A>G (p.His523Arg)
c.545A>G (p.His182Arg)
c.1391A>G (p.His464Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820620A>TCA338146120PER3c.1937A>T (p.His646Leu)
c.1913A>T (p.His638Leu)
c.1916A>T (p.His639Leu)
c.980A>T (p.His327Leu)
c.1934A>T (p.His645Leu)
c.1412A>T (p.His471Leu)
c.1769A>T (p.His590Leu)
c.1589A>T (p.His530Leu)
c.1574A>T (p.His525Leu)
c.1568A>T (p.His523Leu)
c.545A>T (p.His182Leu)
c.1391A>T (p.His464Leu)
1g.7820621T>ACA338146121PER3c.1938T>A (p.His646Gln)
c.1914T>A (p.His638Gln)
c.1917T>A (p.His639Gln)
c.981T>A (p.His327Gln)
c.1935T>A (p.His645Gln)
c.1413T>A (p.His471Gln)
c.1770T>A (p.His590Gln)
c.1590T>A (p.His530Gln)
c.1575T>A (p.His525Gln)
c.1569T>A (p.His523Gln)
c.546T>A (p.His182Gln)
c.1392T>A (p.His464Gln)
1g.7820621T>CCA568247PER3c.1938T>C (p.His646=)
c.1914T>C (p.His638=)
c.1917T>C (p.His639=)
c.981T>C (p.His327=)
c.1935T>C (p.His645=)
c.1413T>C (p.His471=)
c.1770T>C (p.His590=)
c.1590T>C (p.His530=)
c.1575T>C (p.His525=)
c.1569T>C (p.His523=)
c.546T>C (p.His182=)
c.1392T>C (p.His464=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820621T>GCA338146122PER3c.1938T>G (p.His646Gln)
c.1914T>G (p.His638Gln)
c.1917T>G (p.His639Gln)
c.981T>G (p.His327Gln)
c.1935T>G (p.His645Gln)
c.1413T>G (p.His471Gln)
c.1770T>G (p.His590Gln)
c.1590T>G (p.His530Gln)
c.1575T>G (p.His525Gln)
c.1569T>G (p.His523Gln)
c.546T>G (p.His182Gln)
c.1392T>G (p.His464Gln)
1g.7820621T=CA1142247686PER3c.1938T= (p.His646=)
c.1914T= (p.His638=)
c.1917T= (p.His639=)
c.981T= (p.His327=)
c.1935T= (p.His645=)
c.1413T= (p.His471=)
c.1770T= (p.His590=)
c.1590T= (p.His530=)
c.1575T= (p.His525=)
c.1569T= (p.His523=)
c.546T= (p.His182=)
c.1392T= (p.His464=)
1g.7820622G>ACA338146123PER3c.1939G>A (p.Val647Ile)
c.1915G>A (p.Val639Ile)
c.1918G>A (p.Val640Ile)
c.982G>A (p.Val328Ile)
c.1936G>A (p.Val646Ile)
c.1414G>A (p.Val472Ile)
c.1771G>A (p.Val591Ile)
c.1591G>A (p.Val531Ile)
c.1576G>A (p.Val526Ile)
c.1570G>A (p.Val524Ile)
c.547G>A (p.Val183Ile)
c.1393G>A (p.Val465Ile)
1g.7820622G>CCA338146124PER3c.1939G>C (p.Val647Leu)
c.1915G>C (p.Val639Leu)
c.1918G>C (p.Val640Leu)
c.982G>C (p.Val328Leu)
c.1936G>C (p.Val646Leu)
c.1414G>C (p.Val472Leu)
c.1771G>C (p.Val591Leu)
c.1591G>C (p.Val531Leu)
c.1576G>C (p.Val526Leu)
c.1570G>C (p.Val524Leu)
c.547G>C (p.Val183Leu)
c.1393G>C (p.Val465Leu)
1g.7820622G>TCA338146125PER3c.1939G>T (p.Val647Phe)
c.1915G>T (p.Val639Phe)
c.1918G>T (p.Val640Phe)
c.982G>T (p.Val328Phe)
c.1936G>T (p.Val646Phe)
c.1414G>T (p.Val472Phe)
c.1771G>T (p.Val591Phe)
c.1591G>T (p.Val531Phe)
c.1576G>T (p.Val526Phe)
c.1570G>T (p.Val524Phe)
c.547G>T (p.Val183Phe)
c.1393G>T (p.Val465Phe)
1g.7820623T>ACA338146127PER3c.1940T>A (p.Val647Asp)
c.1916T>A (p.Val639Asp)
c.1919T>A (p.Val640Asp)
c.983T>A (p.Val328Asp)
c.1937T>A (p.Val646Asp)
c.1415T>A (p.Val472Asp)
c.1772T>A (p.Val591Asp)
c.1592T>A (p.Val531Asp)
c.1577T>A (p.Val526Asp)
c.1571T>A (p.Val524Asp)
c.548T>A (p.Val183Asp)
c.1394T>A (p.Val465Asp)
1g.7820623T>CCA338146126PER3c.1940T>C (p.Val647Ala)
c.1916T>C (p.Val639Ala)
c.1919T>C (p.Val640Ala)
c.983T>C (p.Val328Ala)
c.1937T>C (p.Val646Ala)
c.1415T>C (p.Val472Ala)
c.1772T>C (p.Val591Ala)
c.1592T>C (p.Val531Ala)
c.1577T>C (p.Val526Ala)
c.1571T>C (p.Val524Ala)
c.548T>C (p.Val183Ala)
c.1394T>C (p.Val465Ala)
1g.7820623T>GCA568248PER3c.1940T>G (p.Val647Gly)
c.1916T>G (p.Val639Gly)
c.1919T>G (p.Val640Gly)
c.983T>G (p.Val328Gly)
c.1937T>G (p.Val646Gly)
c.1415T>G (p.Val472Gly)
c.1772T>G (p.Val591Gly)
c.1592T>G (p.Val531Gly)
c.1577T>G (p.Val526Gly)
c.1571T>G (p.Val524Gly)
c.548T>G (p.Val183Gly)
c.1394T>G (p.Val465Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7820623T=CA1140186318PER3c.1940T= (p.Val647=)
c.1916T= (p.Val639=)
c.1919T= (p.Val640=)
c.983T= (p.Val328=)
c.1937T= (p.Val646=)
c.1415T= (p.Val472=)
c.1772T= (p.Val591=)
c.1592T= (p.Val531=)
c.1577T= (p.Val526=)
c.1571T= (p.Val524=)
c.548T= (p.Val183=)
c.1394T= (p.Val465=)

Number of alleles fetched